V170I (p.Val170Ile) variant of CYP3A4 (Cytochrome P450 3A4)
V170I (p.Val170Ile) 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*9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V170I (p.Val170Ile) variant details
- p.Val170Ile
- rs72552798
- UniProt VAR 011602
- 1000Genomes rs72552798
- ExAC rs72552798
- Benign
- in allele CYP3A4*9
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- AlphaMissense 0.20
- MetaLR 0.08
- MetaSVM -1.01
- CADD 0.02
- PolyPhen-2 0.82
- SIFT 0.30
- EBI: Benign (in allele CYP3A4*9)
- UniProt: Benign (in allele CYP3A4*9)
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: Identification and functional characterization of eight CYP3A4 protein variants. (PMID 11470997)