C293S (p.Cys293Ser) variant of LAMB3 (Laminin subunit beta-3)
C293S (p.Cys293Ser) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Junctional epidermolysis bullosa; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C293S (p.Cys293Ser) variant details
- p.Cys293Ser
- rs759084687
- ClinGen CA1375797
- ClinVar RCV002467160
- ClinVar RCV003403841
- Pathogenic/Likely pathogenic
- Junctional epidermolysis bullosa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.97
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Junctional epidermolysis bullosa; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)