D51Y (p.Asp51Tyr) variant of GCH1 (GTP cyclohydrolase 1)
D51Y (p.Asp51Tyr) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- ExAC rs755299126
- gnomAD rs755299126
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.49
- CADD 24.80
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available