Q124* (p.Gln124Ter) variant of LAMB3 (Laminin subunit beta-3)
Q124* (p.Gln124Ter) 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 0.51 / 1. The record also includes population frequency data and structural context.
Q124* (p.Gln124Ter) variant details
- p.Gln124Ter
- rs1666944608
- ClinGen CA344597132
- cosmic curated COSV61919
- ClinVar RCV003567086
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available