R32H (p.Arg32His) variant of CYP2D6 (Cytochrome P450 2D6)
R32H (p.Arg32His) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R32H (p.Arg32His) variant details
- p.Arg32His
- rs1418365589
- TOPMed rs1418365589
- gnomAD rs1418365589
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 9.64
- PolyPhen-2 0.07
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available