S114A (p.Ser114Ala) variant of CYP2C8 (Cytochrome P450 2C8)
S114A (p.Ser114Ala) in CYP2C8 (Cytochrome P450 2C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S114A (p.Ser114Ala) variant details
- p.Ser114Ala
- TOPMed rs2033592285
- gnomAD rs2033592285
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.08
- CADD 16.80
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- Structural context available