E112D (p.Glu112Asp) variant of LBR (Delta(14)-sterol reductase LBR)
E112D (p.Glu112Asp) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
E112D (p.Glu112Asp) variant details
- p.Glu112Asp
- TOPMed rs1344726084
- gnomAD rs1344726084
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 1.04
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available