G40V (p.Gly40Val) variant of CYP2C8 (Cytochrome P450 2C8)
G40V (p.Gly40Val) in CYP2C8 (Cytochrome P450 2C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G40V (p.Gly40Val) variant details
- p.Gly40Val
- TOPMed rs749557647
- gnomAD rs749557647
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.60
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available