L12R (p.Leu12Arg) variant of CYP2B6 (Cytochrome P450 2B6)
L12R (p.Leu12Arg) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- ExAC rs780323453
- TOPMed rs780323453
- gnomAD rs780323453
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.34
- MetaLR 0.19
- MetaSVM -0.89
- CADD 15.90
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available