W53C (p.Trp53Cys) variant of GCH1 (GTP cyclohydrolase 1)
W53C (p.Trp53Cys) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
W53C (p.Trp53Cys) variant details
- p.Trp53Cys
- NCI-TCGA Cosmic COSV9958
- cosmic curated COSV99582
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.58
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available