S131L (p.Ser131Leu) variant of CYP3A4 (Cytochrome P450 3A4)
S131L (p.Ser131Leu) in CYP3A4 (Cytochrome P450 3A4) 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 0.49 / 1. The record also includes population frequency data.
S131L (p.Ser131Leu) variant details
- p.Ser131Leu
- NCI-TCGA Cosmic COSV6050
- TOPMed rs1815591535
- gnomAD rs1815591535
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 19.10
- PolyPhen-2 0.37
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)