L32H (p.Leu32His) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L32H (p.Leu32His) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L32H (p.Leu32His) variant details
- p.Leu32His
- Ensembl rs1563183392
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.41
- MetaLR 0.14
- MetaSVM -0.96
- CADD 24.30
- PolyPhen-2 0.75
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available