E62G (p.Glu62Gly) variant of GCH1 (GTP cyclohydrolase 1)
E62G (p.Glu62Gly) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E62G (p.Glu62Gly) variant details
- p.Glu62Gly
- gnomAD rs1162192311
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.50
- CADD 24.70
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available