R75G (p.Arg75Gly) variant of LBR (Delta(14)-sterol reductase LBR)
R75G (p.Arg75Gly) 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.
R75G (p.Arg75Gly) variant details
- p.Arg75Gly
- ExAC rs553554966
- TOPMed rs553554966
- gnomAD rs553554966
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.41
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available