P42L (p.Pro42Leu) variant of GCH1 (GTP cyclohydrolase 1)
P42L (p.Pro42Leu) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- gnomAD rs1481021061
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.38
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available