A83T (p.Ala83Thr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A83T (p.Ala83Thr) 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.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- TOPMed rs2086710703
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 20.10
- PolyPhen-2 0.02
- SIFT 0.15
- Most common in the HGDP:YAKUT population (allele frequency 0.04)