P40L (p.Pro40Leu) variant of GCH1 (GTP cyclohydrolase 1)
P40L (p.Pro40Leu) 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 0.30 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- TOPMed rs995999325
- gnomAD rs995999325
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.32
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available