E11A (p.Glu11Ala) variant of GCH1 (GTP cyclohydrolase 1)
E11A (p.Glu11Ala) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E11A (p.Glu11Ala) variant details
- p.Glu11Ala
- gnomAD rs1272621459
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.45
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available