R57R (p.Arg57Arg) variant of CYP2B6 (Cytochrome P450 2B6)
R57R (p.Arg57Arg) in CYP2B6 (Cytochrome P450 2B6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R57R (p.Arg57Arg) variant details
- p.Arg57Arg
- rs751682823
- gnomAD 19-40991476-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 21.70
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available