Q73* (p.Gln73Ter) variant of LAMB3 (Laminin subunit beta-3)
Q73* (p.Gln73Ter) 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 0.38 / 1. The record also includes population frequency data and structural context.
Q73* (p.Gln73Ter) variant details
- p.Gln73Ter
- rs762234799
- ClinGen CA1376058
- ClinVar RCV001044038
- ExAC rs762234799
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available