S53Y (p.Ser53Tyr) variant of CYP2C8 (Cytochrome P450 2C8)
S53Y (p.Ser53Tyr) in CYP2C8 (Cytochrome P450 2C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S53Y (p.Ser53Tyr) variant details
- p.Ser53Tyr
- ExAC rs781484717
- gnomAD rs781484717
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.33
- CADD 19.70
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available