G40E (p.Gly40Glu) variant of CYP2C8 (Cytochrome P450 2C8)
G40E (p.Gly40Glu) in CYP2C8 (Cytochrome P450 2C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G40E (p.Gly40Glu) variant details
- p.Gly40Glu
- TOPMed rs749557647
- gnomAD rs749557647
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available