G95S (p.Gly95Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G95S (p.Gly95Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
G95S (p.Gly95Ser) variant details
- p.Gly95Ser
- cosmic curated COSV62227
- gnomAD rs1275247583
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)