E112K (p.Glu112Lys) variant of LBR (Delta(14)-sterol reductase LBR)
E112K (p.Glu112Lys) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
E112K (p.Glu112Lys) variant details
- p.Glu112Lys
- Ensembl rs1575230074
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- Structural context available