G66D (p.Gly66Asp) variant of LBR (Delta(14)-sterol reductase LBR)
G66D (p.Gly66Asp) in LBR (Delta(14)-sterol reductase LBR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G66D (p.Gly66Asp) variant details
- p.Gly66Asp
- gnomAD rs2096128958
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.41
- CADD 22.20
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available