R57W (p.Arg57Trp) variant of GCH1 (GTP cyclohydrolase 1)
R57W (p.Arg57Trp) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R57W (p.Arg57Trp) variant details
- p.Arg57Trp
- cosmic curated COSV54301
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.58
- CADD 25.90
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available