P42S (p.Pro42Ser) variant of GCH1 (GTP cyclohydrolase 1)
P42S (p.Pro42Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- gnomAD rs1197458063
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.37
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available