R82K (p.Arg82Lys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R82K (p.Arg82Lys) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
R82K (p.Arg82Lys) variant details
- p.Arg82Lys
- Ensembl rs2086710768
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 23.20
- PolyPhen-2 0.23
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)