A164V (p.Ala164Val) variant of CYP3A5 (Cytochrome P450 3A5)
A164V (p.Ala164Val) in CYP3A5 (Cytochrome P450 3A5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A164V (p.Ala164Val) variant details
- p.Ala164Val
- TOPMed rs1271319389
- gnomAD rs1271319389
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.07
- CADD 13.90
- PolyPhen-2 0.02
- SIFT 0.54
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available