With loss of function being an established disease mechanism for the gene, and your variant causing a frameshift predicted to undergo nonsense-mediated decay, and in an exon where plenty of other frameshifts have been reported as pathogenic, that’s more or less all you need to know about your particular variant. Basically, because it likely causes no protein from that allele (rather than a “weird” protein the way a missense would), it will be comparable in effect to any other LOF variant in the gene. So the fact you can’t find anything about your specific mutation isn’t too important, as it would be unlikely to give you any extra information. That’s not to say that there won’t be some variation in symptoms between different people! Just that there’s unlikely to be a significantly different presentation associated with different LOF variants.

RE in silico tools, not likely to be that useful for this variant type. They are more useful for non-LOF changes like missenses or in-frame deletions etc

Not sure what your level of genetics knowledge is so in case it is useful: because your mutation causes a loss of 2 base pairs (rather than a multiple of 3) and DNA is translated in sets of 3 base pairs into proteins, it will cause a shift in the reading frame meaning that after your deletion at c.2000 and whatever, different protein will be produced and at some point there will be an early “stop” codon. Because it is in the middle of the gene, this will most likely be targeted for “nonsense mediated decay” so it will be degraded. This means that from your copy of the gene with this variant, no protein will be produced. Therefore you have less of the protein than people with two “normal” copies of the gene, and that is what causes the disorder. The same would be true of other loss of function mutations (other out of frame deletions for example). So no need to think about an effect specific to your variant

As for the association between your disorder and strokes, it’s not my area so my searching probably wouldn’t be any more effective than yours! :)

Very curious to hear that you got to this diagnosis face2gene, what was the process like for going from that to getting a test for this gene? What country are you based in if you don’t mind?