M1I (p.Met1Ile) variant of LAMP2 (P13473)
M1I (p.Met1Ile) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2147294924
- ClinGen CA414398143
- ClinVar RCV001528125
- Likely pathogenic
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- MetaLR 0.21
- MetaSVM -0.88
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.83
- ClinVar: Likely pathogenic (Danon disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)
- Cited in: Danon Disease. (PMID 32134616)