R51S (p.Arg51Ser) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
R51S (p.Arg51Ser) 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.
R51S (p.Arg51Ser) variant details
- p.Arg51Ser
- ExAC rs772128272
- gnomAD rs772128272
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.27
- MetaLR 0.14
- MetaSVM -0.91
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available