E48K (p.Glu48Lys) variant of LBR (Delta(14)-sterol reductase LBR)
E48K (p.Glu48Lys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- TOPMed rs762108686
- gnomAD rs762108686
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- ESM-1b 1.00
- AlphaMissense 0.27
- Structural context available