I74F (p.Ile74Phe) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
I74F (p.Ile74Phe) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I74F (p.Ile74Phe) variant details
- p.Ile74Phe
- 1000Genomes rs148197561
- ESP rs148197561
- ExAC rs148197561
- TOPMed rs148197561
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.39
- MetaLR 0.21
- MetaSVM -0.83
- CADD 21.60
- PolyPhen-2 0.05
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available