H177R (p.His177Arg) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
H177R (p.His177Arg) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H177R (p.His177Arg) variant details
- p.His177Arg
- TOPMed rs535433995
- gnomAD rs535433995
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.39
- MetaLR 0.36
- MetaSVM -0.47
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available