R51H (p.Arg51His) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
R51H (p.Arg51His) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R51H (p.Arg51His) variant details
- p.Arg51His
- ESP rs141141306
- ExAC rs141141306
- TOPMed rs141141306
- gnomAD rs141141306
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.25
- MetaLR 0.14
- MetaSVM -0.94
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available