V74L (p.Val74Leu) variant of CYP17A1 (P05093)
V74L (p.Val74Leu) in CYP17A1 (P05093) 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 0.61 / 1. The record also includes population frequency data and structural context.
V74L (p.Val74Leu) variant details
- p.Val74Leu
- rs1376979758
- TOPMed rs1376979758
- gnomAD rs1376979758
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.52
- CADD 21.30
- PolyPhen-2 0.65
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available