R95L (p.Arg95Leu) variant of LBR (Delta(14)-sterol reductase LBR)
R95L (p.Arg95Leu) in LBR (Delta(14)-sterol reductase LBR) 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 0.35 / 1. The record also includes population frequency data and structural context.
R95L (p.Arg95Leu) variant details
- p.Arg95Leu
- ESP rs371428900
- ExAC rs371428900
- TOPMed rs371428900
- gnomAD rs371428900
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 21.50
- PolyPhen-2 0.31
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available