R139L (p.Arg139Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
R139L (p.Arg139Leu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R139L (p.Arg139Leu) variant details
- p.Arg139Leu
- ESP rs140356336
- ExAC rs140356336
- TOPMed rs140356336
- gnomAD rs140356336
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.34
- MetaLR 0.33
- MetaSVM -0.54
- CADD 21.90
- PolyPhen-2 0.38
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available