R586H (p.Arg586His) variant of LBR (Delta(14)-sterol reductase LBR)
R586H (p.Arg586His) 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 Greenberg dysplasia; Reynolds syndrome; Pelger-Huët anomaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R586H (p.Arg586His) variant details
- p.Arg586His
- rs573510559
- ClinGen CA1417039
- cosmic curated COSV55290
- ClinVar RCV000656653
- Pathogenic/Likely pathogenic
- Greenberg dysplasia; Reynolds syndrome; Pelger-Huët anomaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.64
- MetaLR 0.72
- MetaSVM 0.66
- CADD 28.00
- ClinVar: Pathogenic/Likely pathogenic (Greenberg dysplasia; Reynolds syndrome; Pelger-Huët anomaly)
- EBI: Pathogenic (in SKPHA)
- UniProt: Pathogenic (in SKPHA)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. (PMID 23824842)
- Cited in: An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene… (PMID 25348816)