R96L (p.Arg96Leu) variant of LBR (Delta(14)-sterol reductase LBR)
R96L (p.Arg96Leu) 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 0.39 / 1. The record also includes population frequency data and structural context.
R96L (p.Arg96Leu) variant details
- p.Arg96Leu
- ExAC rs769191817
- TOPMed rs769191817
- gnomAD rs769191817
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 24.20
- PolyPhen-2 0.52
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available