K207Q (p.Lys207Gln) variant of LAMB3 (Laminin subunit beta-3)
K207Q (p.Lys207Gln) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Junctional epidermolysis bullosa, non-Herlitz type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
K207Q (p.Lys207Gln) variant details
- p.Lys207Gln
- rs121912487
- ClinGen CA257287
- ClinVar RCV000015653
- UniProt VAR 037311
- Pathogenic
- Junctional epidermolysis bullosa, non-Herlitz type
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.13
- MetaLR 0.34
- MetaSVM -0.56
- PolyPhen-2 0.98
- SIFT 0.05
- MutPred 0.55
- ClinVar: Pathogenic (Junctional epidermolysis bullosa, non-Herlitz type)
- EBI: Pathogenic (in JEB1A)
- UniProt: Pathogenic (in JEB1A)
- Structural context available
- Cited in: Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. (PMID 17476356)
- Cited in: E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized… (PMID 9767254)