N70K (p.Asn70Lys) variant of GCH1 (GTP cyclohydrolase 1)
N70K (p.Asn70Lys) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N70K (p.Asn70Lys) variant details
- p.Asn70Lys
- ExAC rs763168809
- TOPMed rs763168809
- gnomAD rs763168809
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.37
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available