R28C (p.Arg28Cys) variant of CYP3A5 (Cytochrome P450 3A5)
R28C (p.Arg28Cys) in CYP3A5 (Cytochrome P450 3A5) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP3A5*8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- rs55817950
- cosmic curated COSV56124
- UniProt VAR 024731
- ExAC rs55817950
- Benign
- in allele CYP3A5*8
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.07
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Benign (in allele CYP3A5*8)
- UniProt: Benign (in allele CYP3A5*8)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Genetic findings and functional studies of human CYP3A5 single nucleotide polymorphisms in different ethnic groups. (PMID 12893984)