E210K (p.Glu210Lys) variant of LAMB3 (Laminin subunit beta-3)
E210K (p.Glu210Lys) 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, non-Herlitz type; Junctional epidermolysis bul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E210K (p.Glu210Lys) variant details
- p.Glu210Lys
- rs121912482
- ClinGen CA257275
- ClinVar RCV000015644
- ClinVar RCV001560565
- Pathogenic/Likely pathogenic
- Junctional epidermolysis bullosa, non-Herlitz type; Junctional epidermolysis bul
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.49
- CADD 33.00
- PolyPhen-2 0.10
- SIFT 0.47
- ClinVar: Pathogenic/Likely pathogenic (Junctional epidermolysis bullosa, non-Herlitz type; Junctional e)
- EBI: Pathogenic (in JEB1A)
- UniProt: Pathogenic (in JEB1A)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. (PMID 17476356)
- Cited in: Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic… (PMID 7706760)