R583Q (p.Arg583Gln) variant of LBR (Delta(14)-sterol reductase LBR)
R583Q (p.Arg583Gln) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R583Q (p.Arg583Gln) variant details
- p.Arg583Gln
- rs587777172
- ClinGen CA150662
- NCI-TCGA Cosmic COSV5528
- cosmic curated COSV55288
- Pathogenic
- Greenberg dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.99
- MetaSVM 1.01
- CADD 29.90
- ClinVar: Pathogenic (Greenberg dysplasia)
- EBI: Pathogenic (in GRBGD)
- UniProt: Pathogenic (in GRBGD)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2)… (PMID 14684697)
- Cited in: Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear… (PMID 21327084)