V5E (p.Val5Glu) variant of CYP2C8 (Cytochrome P450 2C8)
V5E (p.Val5Glu) in CYP2C8 (Cytochrome P450 2C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V5E (p.Val5Glu) variant details
- p.Val5Glu
- ExAC rs749659748
- gnomAD rs749659748
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.43
- CADD 18.60
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available