R42* (p.Arg42Ter) variant of LAMB3 (Laminin subunit beta-3)
R42* (p.Arg42Ter) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R42* (p.Arg42Ter) variant details
- p.Arg42Ter
- rs80356680
- ClinGen CA341329
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10062
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic… (PMID 7706760)
- Cited in: Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. (PMID 8824879)