F22V (p.Phe22Val) variant of GCH1 (GTP cyclohydrolase 1)
F22V (p.Phe22Val) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
F22V (p.Phe22Val) variant details
- p.Phe22Val
- gnomAD rs1220614834
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.35
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available