R51C (p.Arg51Cys) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
R51C (p.Arg51Cys) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R51C (p.Arg51Cys) variant details
- p.Arg51Cys
- ExAC rs772128272
- gnomAD rs772128272
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.27
- MetaLR 0.17
- MetaSVM -0.87
- CADD 25.50
- PolyPhen-2 0.68
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available