S58L (p.Ser58Leu) variant of CYP2C9 (Cytochrome P450 2C9)
S58L (p.Ser58Leu) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S58L (p.Ser58Leu) variant details
- p.Ser58Leu
- TOPMed rs1045243646
- gnomAD rs1045243646
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available