R162Q (p.Arg162Gln) variant of CYP3A4 (Cytochrome P450 3A4)
R162Q (p.Arg162Gln) in CYP3A4 (Cytochrome P450 3A4) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP3A4*15. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and published literature.
R162Q (p.Arg162Gln) variant details
- p.Arg162Gln
- rs4986907
- UniProt VAR 011601
- 1000Genomes rs4986907
- ESP rs4986907
- Benign
- in allele CYP3A4*15
- Missense
- Variant Prioritization Score for Impact Estimate 0.057
- CADD 0.34
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Benign (in allele CYP3A4*15)
- UniProt: Benign (in allele CYP3A4*15)
- Most common in the HGDP:YORUBA population (allele frequency 0.095)
- Cited in: Identification of variants of CYP3A4 and characterization of their abilities to metabolize testosterone and… (PMID 11714865)
- Cited in: Common allelic variants of cytochrome P4503A4 and their prevalence in different populations. (PMID 11875366)