F54L (p.Phe54Leu) variant of CYP17A1 (P05093)
F54L (p.Phe54Leu) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- TOPMed rs1338605474
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.19
- CADD 20.10
- PolyPhen-2 0.56
- SIFT 0.65
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available