R83G (p.Arg83Gly) variant of LBR (Delta(14)-sterol reductase LBR)
R83G (p.Arg83Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R83G (p.Arg83Gly) variant details
- p.Arg83Gly
- ExAC rs745448849
- TOPMed rs745448849
- gnomAD rs745448849
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.43
- ESM-1b 0.14
- AlphaMissense 0.64
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available