L115R (p.Leu115Arg) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L115R (p.Leu115Arg) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L115R (p.Leu115Arg) variant details
- p.Leu115Arg
- rs1328030760
- ClinGen CA368179647
- ClinVar RCV004287454
- TOPMed rs1328030760
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.93
- MetaLR 0.78
- MetaSVM 0.75
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available