R49K (p.Arg49Lys) variant of CYP2B6 (Cytochrome P450 2B6)
R49K (p.Arg49Lys) in CYP2B6 (Cytochrome P450 2B6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R49K (p.Arg49Lys) variant details
- p.Arg49Lys
- rs779942397
- gnomAD 19-40991450-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.86
- Population evidence available
- Structural context available
- Literature evidence available