R83S (p.Arg83Ser) variant of LBR (Delta(14)-sterol reductase LBR)
R83S (p.Arg83Ser) 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 0.50 / 1. The record also includes population frequency data and structural context.
R83S (p.Arg83Ser) variant details
- p.Arg83Ser
- ExAC rs745448849
- TOPMed rs745448849
- gnomAD rs745448849
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.39
- ESM-1b 0.03
- AlphaMissense 0.88
- CADD 23.70
- PolyPhen-2 0.77
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available