A41V (p.Ala41Val) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A41V (p.Ala41Val) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- ExAC rs780169628
- gnomAD rs780169628
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)