R101L (p.Arg101Leu) variant of CYP2A6 (Cytochrome P450 2A6)
R101L (p.Arg101Leu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. 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.
R101L (p.Arg101Leu) variant details
- p.Arg101Leu
- ESP rs375051929
- ExAC rs375051929
- TOPMed rs375051929
- gnomAD rs375051929
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.40
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available