Q19* (p.Gln19Ter) variant of LAMB3 (Laminin subunit beta-3)
Q19* (p.Gln19Ter) in LAMB3 (Laminin subunit beta-3) 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 0.66 / 1. The record also includes population frequency data and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- rs200672750
- ClinGen CA344566357
- ClinVar RCV000795875
- 1000Genomes rs200672750
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available