R134Q (p.Arg134Gln) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R134Q (p.Arg134Gln) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
R134Q (p.Arg134Gln) variant details
- p.Arg134Gln
- cosmic curated COSV62228
- ESP rs200879559
- ExAC rs200879559
- TOPMed rs200879559
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)