A83S (p.Ala83Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A83S (p.Ala83Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
A83S (p.Ala83Ser) variant details
- p.Ala83Ser
- TOPMed rs2086710703
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 19.40
- PolyPhen-2 0.20
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)