R15* (p.Arg15Ter) variant of LBR (Delta(14)-sterol reductase LBR)
R15* (p.Arg15Ter) in LBR (Delta(14)-sterol reductase LBR) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R15* (p.Arg15Ter) variant details
- p.Arg15Ter
- rs192681330
- ClinGen CA38521798
- ClinVar RCV003074910
- 1000Genomes rs192681330
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available