D105E (p.Asp105Glu) variant of LBR (Delta(14)-sterol reductase LBR)
D105E (p.Asp105Glu) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D105E (p.Asp105Glu) variant details
- p.Asp105Glu
- gnomAD rs1308755479
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 5.93
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available