R85G (p.Arg85Gly) variant of LBR (Delta(14)-sterol reductase LBR)
R85G (p.Arg85Gly) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R85G (p.Arg85Gly) variant details
- p.Arg85Gly
- TOPMed rs1293819920
- gnomAD rs1293819920
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.74
- CADD 16.20
- PolyPhen-2 0.34
- SIFT 0.02
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available