L108P (p.Leu108Pro) variant of LAMB3 (Laminin subunit beta-3)
L108P (p.Leu108Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
L108P (p.Leu108Pro) variant details
- p.Leu108Pro
- rs1464871076
- ClinGen CA344597345
- ClinVar RCV001352729
- TOPMed rs1464871076
- Pathogenic
- Junctional epidermolysis bullosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 0.79
- MetaLR 0.75
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Pathogenic (Junctional epidermolysis bullosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)