S18L (p.Ser18Leu) variant of CYP2C8 (Cytochrome P450 2C8)
S18L (p.Ser18Leu) in CYP2C8 (Cytochrome P450 2C8) 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 0.21 / 1. The record also includes population frequency data and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- NCI-TCGA Cosmic COSV6487
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.07
- CADD 3.35
- PolyPhen-2 0.01
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available