K92E (p.Lys92Glu) variant of LBR (Delta(14)-sterol reductase LBR)
K92E (p.Lys92Glu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
K92E (p.Lys92Glu) variant details
- p.Lys92Glu
- rs1170157436
- ClinGen CA345001331
- ClinVar RCV002293931
- TOPMed rs1170157436
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.81
- MetaSVM 0.18
- PolyPhen-2 0.10
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available