R26C (p.Arg26Cys) variant of CYP2D6 (Cytochrome P450 2D6)
R26C (p.Arg26Cys) 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 0.40 / 1. The record also includes population frequency data and structural context.
R26C (p.Arg26Cys) variant details
- p.Arg26Cys
- rs145868402
- ClinGen CA10265373
- ClinVar RCV004187988
- ESP rs145868402
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in allele CYP2D6*21 and allele CYP2D6*46)
- UniProt: Uncertain significance (in allele CYP2D6*21 and allele CYP2D6*46)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available