R134P (p.Arg134Pro) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R134P (p.Arg134Pro) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
R134P (p.Arg134Pro) variant details
- p.Arg134Pro
- ESP rs200879559
- ExAC rs200879559
- TOPMed rs200879559
- gnomAD rs200879559
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)