R64H (p.Arg64His) variant of CYP2A6 (Cytochrome P450 2A6)
R64H (p.Arg64His) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R64H (p.Arg64His) variant details
- p.Arg64His
- rs374515279
- ESP rs374515279
- ExAC rs374515279
- TOPMed rs374515279
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.14
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available