N56S (p.Asn56Ser) variant of CYP2C8 (Cytochrome P450 2C8)
N56S (p.Asn56Ser) in CYP2C8 (Cytochrome P450 2C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
N56S (p.Asn56Ser) variant details
- p.Asn56Ser
- ESP rs113939225
- ExAC rs113939225
- TOPMed rs113939225
- gnomAD rs113939225
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.10
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available