R26K (p.Arg26Lys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R26K (p.Arg26Lys) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
R26K (p.Arg26Lys) variant details
- p.Arg26Lys
- gnomAD rs1234699637
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- CADD 28.90
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)