R22L (p.Arg22Leu) variant of CYP2B6 (Cytochrome P450 2B6)
R22L (p.Arg22Leu) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- ESP rs375553471
- ExAC rs375553471
- TOPMed rs375553471
- gnomAD rs375553471
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.15
- MetaLR 0.18
- MetaSVM -0.89
- CADD 14.30
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available