R83C (p.Arg83Cys) variant of LBR (Delta(14)-sterol reductase LBR)
R83C (p.Arg83Cys) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R83C (p.Arg83Cys) variant details
- p.Arg83Cys
- rs745448849
- ClinGen CA1417530
- ClinVar RCV003864921
- ExAC rs745448849
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.60
- CADD 28.30
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available