R59C (p.Arg59Cys) variant of GCH1 (GTP cyclohydrolase 1)
R59C (p.Arg59Cys) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- ExAC rs753312849
- TOPMed rs753312849
- gnomAD rs753312849
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.60
- CADD 25.90
- PolyPhen-2 0.03
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available