S12L (p.Ser12Leu) variant of CYP2C9 (Cytochrome P450 2C9)
S12L (p.Ser12Leu) in CYP2C9 (Cytochrome P450 2C9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
S12L (p.Ser12Leu) variant details
- p.Ser12Leu
- NCI-TCGA Cosmic COSV5324
- cosmic curated COSV53246
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.08
- CADD 10.80
- PolyPhen-2 0.03
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available