R23C (p.Arg23Cys) variant of LAMB3 (Laminin subunit beta-3)
R23C (p.Arg23Cys) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Junctional epidermolysis bullosa; Junctional epidermolysis bullosa gravis of Her. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R23C (p.Arg23Cys) variant details
- p.Arg23Cys
- rs115191959
- ClinGen CA1376110
- ClinVar RCV000294349
- ClinVar RCV000892333
- Likely benign
- Junctional epidermolysis bullosa; Junctional epidermolysis bullosa gravis of Her
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.29
- CADD 28.70
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Likely benign (Junctional epidermolysis bullosa; Junctional epidermolysis bullo)
- EBI: Likely benign
- UniProt: Likely benign
- 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)