N70Y (p.Asn70Tyr) variant of GCH1 (GTP cyclohydrolase 1)
N70Y (p.Asn70Tyr) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
N70Y (p.Asn70Tyr) variant details
- p.Asn70Tyr
- gnomAD rs1356789844
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.33
- CADD 22.60
- PolyPhen-2 0.09
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available