N547S (p.Asn547Ser) variant of LBR (Delta(14)-sterol reductase LBR)
N547S (p.Asn547Ser) 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 Regressive spondylometaphyseal dysplasia; Anadysplasia-like, spontaneously remit. 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.
N547S (p.Asn547Ser) variant details
- p.Asn547Ser
- rs374343844
- ClinGen CA353622
- ClinVar RCV000210471
- ClinVar RCV001250665
- Pathogenic/Likely pathogenic
- Regressive spondylometaphyseal dysplasia; Anadysplasia-like, spontaneously remit
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.40
- ClinVar: Pathogenic/Likely pathogenic (Regressive spondylometaphyseal dysplasia; Anadysplasia-like, spo)
- EBI: Pathogenic (in SKPHA)
- UniProt: Pathogenic (in SKPHA)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene… (PMID 25348816)
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)