L56R (p.Leu56Arg) variant of CYP2B6 (Cytochrome P450 2B6)
L56R (p.Leu56Arg) 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, published literature, and structural context.
L56R (p.Leu56Arg) variant details
- p.Leu56Arg
- gnomAD 19-40991472-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.19
- MetaLR 0.14
- MetaSVM -0.98
- CADD 10.40
- PolyPhen-2 0.10
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available