R100S (p.Arg100Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R100S (p.Arg100Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
R100S (p.Arg100Ser) variant details
- p.Arg100Ser
- TOPMed rs898789292
- gnomAD rs898789292
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)