I74L (p.Ile74Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
I74L (p.Ile74Leu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I74L (p.Ile74Leu) variant details
- p.Ile74Leu
- 1000Genomes rs148197561
- ESP rs148197561
- ExAC rs148197561
- TOPMed rs148197561
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.13
- MetaLR 0.16
- MetaSVM -0.99
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available