L115P (p.Leu115Pro) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L115P (p.Leu115Pro) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L115P (p.Leu115Pro) variant details
- p.Leu115Pro
- TOPMed rs1328030760
- gnomAD rs1328030760
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.85
- MetaLR 0.66
- MetaSVM 0.47
- CADD 27.20
- PolyPhen-2 0.89
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available