S18L (p.Ser18Leu) variant of CYP2C9 (Cytochrome P450 2C9)
S18L (p.Ser18Leu) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- cosmic curated COSV53247
- Ensembl rs1564706179
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.19
- CADD 12.30
- PolyPhen-2 0.28
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available