R512Q (p.Arg512Gln) variant of LBR (Delta(14)-sterol reductase LBR)
R512Q (p.Arg512Gln) 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 not provided; LBR-related disorder; Regressive spondylometaphyseal dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R512Q (p.Arg512Gln) variant details
- p.Arg512Gln
- rs754049402
- ClinGen CA1417117
- ClinVar RCV000516056
- ClinVar RCV001330715
- Pathogenic/Likely pathogenic
- not provided; LBR-related disorder; Regressive spondylometaphyseal dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.99
- MetaSVM 1.00
- CADD 29.40
- ClinVar: Pathogenic/Likely pathogenic (not provided; LBR-related disorder; Regressive spondylometaphyse)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available