C18S (p.Cys18Ser) variant of GCH1 (GTP cyclohydrolase 1)
C18S (p.Cys18Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
C18S (p.Cys18Ser) variant details
- p.Cys18Ser
- TOPMed rs1299121897
- gnomAD rs1299121897
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.52
- CADD 22.80
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available