M1L (p.Met1Leu) variant of LAMP2 (P13473)
M1L (p.Met1Leu) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1556124149
- ClinGen CA414398164
- ClinVar RCV000512988
- ClinVar RCV006463201
- Pathogenic
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- MetaLR 0.17
- MetaSVM -0.90
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.82
- ClinVar: Pathogenic (Cardiovascular phenotype; Danon disease)
- EBI: Pathogenic
- UniProt: 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)