I118V (p.Ile118Val) variant of CYP3A4 (Cytochrome P450 3A4)
I118V (p.Ile118Val) 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*4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
I118V (p.Ile118Val) variant details
- p.Ile118Val
- rs55951658
- UniProt VAR 011599
- 1000Genomes rs55951658
- ExAC rs55951658
- Benign
- in allele CYP3A4*4
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.78
- EBI: Benign (in allele CYP3A4*4)
- UniProt: Benign (in allele CYP3A4*4)
- Most common in the 1KG:KHV population (allele frequency 0.02)
- Cited in: Novel mutations of CYP3A4 in Chinese. (PMID 11181494)
- Cited in: Effects of a commonly occurring genetic polymorphism of human CYP3A4 (I118V) on the metabolism of anandamide. (PMID 20702771)