L32F (p.Leu32Phe) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L32F (p.Leu32Phe) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L32F (p.Leu32Phe) variant details
- p.Leu32Phe
- TOPMed rs1819994970
- gnomAD rs1819994970
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.20
- MetaLR 0.15
- MetaSVM -0.93
- CADD 16.70
- PolyPhen-2 0.03
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available