N547D (p.Asn547Asp) variant of LBR (Delta(14)-sterol reductase LBR)
N547D (p.Asn547Asp) in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pelger-Huët anomaly; Greenberg dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
N547D (p.Asn547Asp) variant details
- p.Asn547Asp
- rs587777171
- ClinGen CA150660
- ClinVar RCV000087263
- ClinVar RCV001197988
- Pathogenic/Likely pathogenic
- Pelger-Huët anomaly; Greenberg dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.06
- CADD 27.70
- ClinVar: Pathogenic/Likely pathogenic (Pelger-Huët anomaly; Greenberg dysplasia)
- EBI: Pathogenic (in GRBGD)
- UniProt: Pathogenic (in GRBGD)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. (PMID 18382993)
- Cited in: Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear… (PMID 21327084)