E48Q (p.Glu48Gln) variant of LBR (Delta(14)-sterol reductase LBR)
E48Q (p.Glu48Gln) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- TOPMed rs762108686
- gnomAD rs762108686
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 23.00
- PolyPhen-2 0.46
- SIFT 0.06
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available