R22C (p.Arg22Cys) variant of CYP2B6 (Cytochrome P450 2B6)
R22C (p.Arg22Cys) in CYP2B6 (Cytochrome P450 2B6) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP2B6*2 and allele CYP2B6*10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R22C (p.Arg22Cys) variant details
- p.Arg22Cys
- rs8192709
- cosmic curated COSV60699
- UniProt VAR 016927
- 1000Genomes rs8192709
- Benign
- in allele CYP2B6*2 and allele CYP2B6*10
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.21
- MetaLR 0.02
- MetaSVM -0.96
- CADD 8.75
- PolyPhen-2 0.27
- SIFT 0.04
- EBI: Benign (in allele CYP2B6*2 and allele CYP2B6*10)
- UniProt: Benign (in allele CYP2B6*2 and allele CYP2B6*10)
- Most common in the HGDP:MIAO population (allele frequency 0.15)
- Structural context available
- Cited in: Extensive genetic polymorphism in the human CYP2B6 gene with impact on expression and function in human liver. (PMID 11470993)
- Cited in: Functional characterization of cytochrome P450 2B6 allelic variants. (PMID 12642465)