R101Q (p.Arg101Gln) variant of CYP2A6 (Cytochrome P450 2A6)
R101Q (p.Arg101Gln) 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 0.49 / 1. The record also includes population frequency data and structural context.
R101Q (p.Arg101Gln) variant details
- p.Arg101Gln
- rs375051929
- ESP rs375051929
- ExAC rs375051929
- TOPMed rs375051929
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.40
- CADD 23.20
- PolyPhen-2 0.69
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00036)
- Structural context available