D8G (p.Asp8Gly) variant of LBR (Delta(14)-sterol reductase LBR)
D8G (p.Asp8Gly) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D8G (p.Asp8Gly) variant details
- p.Asp8Gly
- TOPMed rs2096134152
- gnomAD rs2096134152
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 22.90
- PolyPhen-2 0.42
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available