R26H (p.Arg26His) variant of CYP2D6 (Cytochrome P450 2D6)
R26H (p.Arg26His) in CYP2D6 (Cytochrome P450 2D6) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP2D6*21 and allele CYP2D6*46. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R26H (p.Arg26His) variant details
- p.Arg26His
- rs28371696
- cosmic curated COSV62244
- UniProt VAR 008367
- 1000Genomes rs28371696
- Benign
- in allele CYP2D6*21 and allele CYP2D6*46
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.02
- EBI: Benign (in allele CYP2D6*21 and allele CYP2D6*46)
- UniProt: Benign (in allele CYP2D6*21 and allele CYP2D6*46)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population. (PMID 15469410)
- Cited in: Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African… (PMID 15768052)