S52F (p.Ser52Phe) variant of CYP3A5 (Cytochrome P450 3A5)
S52F (p.Ser52Phe) in CYP3A5 (Cytochrome P450 3A5) 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 0.05 / 1. The record also includes population frequency data and structural context.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- rs930419944
- NCI-TCGA Cosmic COSV9976
- cosmic curated COSV99769
- gnomAD rs930419944
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0515
- REVEL 0.03
- CADD 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available