I45V (p.Ile45Val) variant of CYP2C8 (Cytochrome P450 2C8)
I45V (p.Ile45Val) in CYP2C8 (Cytochrome P450 2C8) 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 0.03 / 1. The record also includes population frequency data and structural context.
I45V (p.Ile45Val) variant details
- p.Ile45Val
- ExAC rs771032812
- TOPMed rs771032812
- gnomAD rs771032812
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0341
- REVEL 0.01
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available