R85Q (p.Arg85Gln) variant of LBR (Delta(14)-sterol reductase LBR)
R85Q (p.Arg85Gln) 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 Greenberg dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R85Q (p.Arg85Gln) variant details
- p.Arg85Gln
- rs758063579
- ClinGen CA1417525
- ClinVar RCV001097085
- ExAC rs758063579
- Uncertain significance
- Greenberg dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.26
- ESM-1b 0.23
- AlphaMissense 0.48
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Greenberg dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available