R26I (p.Arg26Ile) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R26I (p.Arg26Ile) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
R26I (p.Arg26Ile) variant details
- p.Arg26Ile
- gnomAD rs1234699637
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)