L11R (p.Leu11Arg) variant of CYP2B6 (Cytochrome P450 2B6)
L11R (p.Leu11Arg) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- gnomAD 19-40991337-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.46
- MetaLR 0.27
- MetaSVM -0.78
- CADD 20.80
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available