W95* (p.Trp95Ter) variant of LAMB3 (Laminin subunit beta-3)
W95* (p.Trp95Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W95* (p.Trp95Ter) variant details
- p.Trp95Ter
- rs1558163550
- ClinGen CA344597582
- ClinVar RCV000760426
- ClinVar RCV005021148
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)