R96Q (p.Arg96Gln) variant of LBR (Delta(14)-sterol reductase LBR)
R96Q (p.Arg96Gln) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Greenberg dysplasia. 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.
R96Q (p.Arg96Gln) variant details
- p.Arg96Gln
- rs769191817
- ClinGen CA1417513
- ClinVar RCV001102489
- ClinVar RCV002556056
- Uncertain significance
- not provided; Greenberg dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.90
- PolyPhen-2 0.66
- SIFT 0.19
- ClinVar: Uncertain significance (not provided; Greenberg dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available