S3C (p.Ser3Cys) variant of CYP2C9 (Cytochrome P450 2C9)
S3C (p.Ser3Cys) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S3C (p.Ser3Cys) variant details
- p.Ser3Cys
- ExAC rs774250598
- TOPMed rs774250598
- gnomAD rs774250598
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.05
- CADD 0.32
- PolyPhen-2 0.10
- SIFT 0.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available