R48K (p.Arg48Lys) variant of CYP2B6 (Cytochrome P450 2B6)
R48K (p.Arg48Lys) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R48K (p.Arg48Lys) variant details
- p.Arg48Lys
- ExAC rs776316462
- gnomAD rs776316462
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.04
- MetaLR 0.19
- MetaSVM -0.93
- CADD 12.30
- PolyPhen-2 0.53
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available