A75V (p.Ala75Val) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A75V (p.Ala75Val) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
A75V (p.Ala75Val) variant details
- p.Ala75Val
- TOPMed rs1160585914
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00012)