F60C (p.Phe60Cys) variant of CYP3A5 (Cytochrome P450 3A5)
F60C (p.Phe60Cys) 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 0.35 / 1. The record also includes population frequency data and structural context.
F60C (p.Phe60Cys) variant details
- p.Phe60Cys
- rs1368152429
- NCI-TCGA Cosmic COSV5612
- cosmic curated COSV56122
- TOPMed rs1368152429
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.86
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available