G112V (p.Gly112Val) variant of CYP3A5 (Cytochrome P450 3A5)
G112V (p.Gly112Val) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G112V (p.Gly112Val) variant details
- p.Gly112Val
- ExAC rs748003177
- gnomAD rs748003177
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.39
- CADD 22.10
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available