G40V (p.Gly40Val) variant of CYP2C9 (Cytochrome P450 2C9)
G40V (p.Gly40Val) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G40V (p.Gly40Val) variant details
- p.Gly40Val
- ExAC rs755537965
- TOPMed rs755537965
- gnomAD rs755537965
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.45
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available