R79* (p.Arg79Ter) variant of LBR (Delta(14)-sterol reductase LBR)
R79* (p.Arg79Ter) in LBR (Delta(14)-sterol reductase LBR) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R79* (p.Arg79Ter) variant details
- p.Arg79Ter
- rs1363715209
- ClinGen CA345001573
- cosmic curated COSV55289
- ClinVar RCV002221980
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available