H24R (p.His24Arg) variant of CYP2D6 (Cytochrome P450 2D6)
H24R (p.His24Arg) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data and structural context.
H24R (p.His24Arg) variant details
- p.His24Arg
- TOPMed rs1358991664
- gnomAD rs1358991664
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 22.60
- PolyPhen-2 0.70
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available