R35A (p.Arg35Ala) variant of CYP2B6 (Cytochrome P450 2B6)
R35A (p.Arg35Ala) in CYP2B6 (Cytochrome P450 2B6) is a protein-truncating 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.
R35A (p.Arg35Ala) variant details
- p.Arg35Ala
- rs756365431
- gnomAD 19-40991404-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 20.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available