R96P (p.Arg96Pro) variant of LBR (Delta(14)-sterol reductase LBR)
R96P (p.Arg96Pro) 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 0.32 / 1. The record also includes population frequency data and structural context.
R96P (p.Arg96Pro) variant details
- p.Arg96Pro
- ExAC rs769191817
- TOPMed rs769191817
- gnomAD rs769191817
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.30
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available