R130Q (p.Arg130Gln) variant of CYP3A4 (Cytochrome P450 3A4)
R130Q (p.Arg130Gln) 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*8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R130Q (p.Arg130Gln) variant details
- p.Arg130Gln
- rs72552799
- UniProt VAR 011600
- 1000Genomes rs72552799
- ESP rs72552799
- Benign
- in allele CYP3A4*8
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign (in allele CYP3A4*8)
- UniProt: Benign (in allele CYP3A4*8)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Identification and functional characterization of eight CYP3A4 protein variants. (PMID 11470997)