R134W (p.Arg134Trp) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R134W (p.Arg134Trp) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
R134W (p.Arg134Trp) variant details
- p.Arg134Trp
- ExAC rs756585525
- TOPMed rs756585525
- gnomAD rs756585525
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)