D460G (p.Asp460Gly) variant of LBR (Delta(14)-sterol reductase LBR)
D460G (p.Asp460Gly) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Greenberg dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
D460G (p.Asp460Gly) variant details
- p.Asp460Gly
- rs2150945343
- ClinGen CA344994454
- ClinVar RCV001824088
- Ensembl rs2150945343
- Pathogenic
- Greenberg dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Greenberg dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An… (PMID 30561119)