M1I (p.Met1Ile) variant of LAMB3 (Laminin subunit beta-3)
M1I (p.Met1Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs766177957
- ClinGen CA1376145
- ClinVar RCV003561290
- ClinVar RCV005429437
- Likely pathogenic
- Junctional epidermolysis bullosa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- MetaLR 0.48
- MetaSVM -0.04
- PolyPhen-2 0.85
- SIFT 0.01
- MutPred 0.94
- ClinVar: Likely pathogenic (Junctional epidermolysis bullosa; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)