M1I (p.Met1Ile) variant of LAMC2 (Laminin subunit gamma-2)
M1I (p.Met1Ile) in LAMC2 (Laminin subunit gamma-2) 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 0.34 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1479808203
- ClinGen CA343662642
- ClinVar RCV000665081
- Likely pathogenic
- Junctional epidermolysis bullosa gravis of Herlitz
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- MetaLR 0.12
- MetaSVM -1.01
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.83
- 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)