C355R (p.Cys355Arg) variant of LAMB3 (Laminin subunit beta-3)
C355R (p.Cys355Arg) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C355R (p.Cys355Arg) variant details
- p.Cys355Arg
- rs532875477
- ClinGen CA36758460
- ClinVar RCV001955513
- ClinVar RCV003317558
- Pathogenic/Likely pathogenic
- Junctional epidermolysis bullosa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.99
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Junctional epidermolysis bullosa; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)