M1L (p.Met1Leu) variant of LAMB3 (Laminin subunit beta-3)
M1L (p.Met1Leu) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Junctional epidermolysis bullosa gravis of Herlitz. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2102467762
- ClinGen CA344566482
- ClinVar RCV001823693
- Likely pathogenic
- Junctional epidermolysis bullosa gravis of Herlitz
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- MetaLR 0.33
- MetaSVM -0.59
- PolyPhen-2 0.52
- SIFT 0.09
- MutPred 0.87
- ClinVar: Likely pathogenic (Junctional epidermolysis bullosa gravis of Herlitz)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)