A87V (p.Ala87Val) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A87V (p.Ala87Val) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
A87V (p.Ala87Val) variant details
- p.Ala87Val
- cosmic curated COSV62228
- ExAC rs749967227
- gnomAD rs749967227
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 23.90
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)