R32C (p.Arg32Cys) variant of CYP2D6 (Cytochrome P450 2D6)
R32C (p.Arg32Cys) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- rs762378491
- ClinGen CA10265366
- ClinVar RCV004367933
- ExAC rs762378491
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 21.10
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available