G69V (p.Gly69Val) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G69V (p.Gly69Val) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
G69V (p.Gly69Val) variant details
- p.Gly69Val
- ExAC rs763187704
- gnomAD rs763187704
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)