P40S (p.Pro40Ser) variant of GCH1 (GTP cyclohydrolase 1)
P40S (p.Pro40Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- TOPMed rs2040585105
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.33
- CADD 20.10
- PolyPhen-2 0.07
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available