G88R (p.Gly88Arg) variant of LBR (Delta(14)-sterol reductase LBR)
G88R (p.Gly88Arg) 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 0.56 / 1. The record also includes population frequency data and structural context.
G88R (p.Gly88Arg) variant details
- p.Gly88Arg
- ExAC rs754965227
- TOPMed rs754965227
- gnomAD rs754965227
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.71
- CADD 23.60
- PolyPhen-2 0.92
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available