A36E (p.Ala36Glu) variant of GCH1 (GTP cyclohydrolase 1)
A36E (p.Ala36Glu) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A36E (p.Ala36Glu) variant details
- p.Ala36Glu
- gnomAD rs1431116951
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.35
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available