G46V (p.Gly46Val) variant of CYP2C9 (Cytochrome P450 2C9)
G46V (p.Gly46Val) in CYP2C9 (Cytochrome P450 2C9) 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 0.14 / 1. The record also includes population frequency data and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- ExAC rs777883564
- TOPMed rs777883564
- gnomAD rs777883564
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.20
- CADD 0.21
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available