P32S (p.Pro32Ser) variant of GCH1 (GTP cyclohydrolase 1)
P32S (p.Pro32Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- TOPMed rs1456164846
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.36
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available