R72Q (p.Arg72Gln) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R72Q (p.Arg72Gln) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
R72Q (p.Arg72Gln) variant details
- p.Arg72Gln
- ESP rs11191917
- ExAC rs11191917
- TOPMed rs11191917
- gnomAD rs11191917
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the HGDP:YAKUT population (allele frequency 0.04)