R28H (p.Arg28His) variant of CYP2D6 (Cytochrome P450 2D6)
R28H (p.Arg28His) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in allele CYP2D6*22. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- rs377617003
- ESP rs377617003
- ExAC rs377617003
- TOPMed rs377617003
- Variant assessed as somatic; moderate impact.
- in allele CYP2D6*22
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact. (in allele CYP2D6*22)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available