A87P (p.Ala87Pro) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A87P (p.Ala87Pro) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
A87P (p.Ala87Pro) variant details
- p.Ala87Pro
- ExAC rs755660814
- gnomAD rs755660814
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 24.10
- PolyPhen-2 0.52
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)