M1V (p.Met1Val) variant of LAMC2 (Laminin subunit gamma-2)
M1V (p.Met1Val) in LAMC2 (Laminin subunit gamma-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Epidermolysis bullosa, junctional 3A, intermediate; Epidermolysis bullosa, junct. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs886045625
- ClinGen CA10608472
- ClinVar RCV000280030
- ClinVar RCV000675150
- Conflicting interpretations
- Epidermolysis bullosa, junctional 3A, intermediate; Epidermolysis bullosa, junct
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- MetaLR 0.11
- MetaSVM -1.01
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.81
- ClinVar: Conflicting classifications of pathogenicity (Epidermolysis bullosa, junctional 3A, intermediate; Epidermolysi)
- EBI: Likely pathogenic
- UniProt: Likely 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)