R32G (p.Arg32Gly) variant of CYP2D6 (Cytochrome P450 2D6)
R32G (p.Arg32Gly) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R32G (p.Arg32Gly) variant details
- p.Arg32Gly
- ExAC rs762378491
- TOPMed rs762378491
- gnomAD rs762378491
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 22.70
- PolyPhen-2 0.81
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available