R28C (p.Arg28Cys) variant of CYP2D6 (Cytochrome P450 2D6)
R28C (p.Arg28Cys) 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*22. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- rs138100349
- cosmic curated COSV62242
- UniProt VAR 008368
- 1000Genomes rs138100349
- Benign
- in allele CYP2D6*22
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 12.90
- PolyPhen-2 0.02
- SIFT 0.07
- EBI: Benign (in allele CYP2D6*22)
- UniProt: Benign (in allele CYP2D6*22)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available