E37G (p.Glu37Gly) variant of GCH1 (GTP cyclohydrolase 1)
E37G (p.Glu37Gly) 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.
E37G (p.Glu37Gly) variant details
- p.Glu37Gly
- gnomAD rs1281740862
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.29
- CADD 22.00
- PolyPhen-2 0.07
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available