W96C (p.Trp96Cys) variant of GCH1 (GTP cyclohydrolase 1)
W96C (p.Trp96Cys) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
W96C (p.Trp96Cys) variant details
- p.Trp96Cys
- Ensembl rs938156011
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.81
- CADD 24.30
- PolyPhen-2 0.27
- SIFT 0.05
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available