R59E (p.Arg59Glu) variant of CYP2B6 (Cytochrome P450 2B6)
R59E (p.Arg59Glu) in CYP2B6 (Cytochrome P450 2B6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R59E (p.Arg59Glu) variant details
- p.Arg59Glu
- rs755505792
- gnomAD 19-41004002-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available