P9L (p.Pro9Leu) variant of GCH1 (GTP cyclohydrolase 1)
P9L (p.Pro9Leu) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- TOPMed rs1262075886
- gnomAD rs1262075886
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.24
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available