V310I (p.Val310Ile) variant of LAMP2 (P13473)
V310I (p.Val310Ile) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Danon disease; Hypertrophic cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
V310I (p.Val310Ile) variant details
- p.Val310Ile
- rs104894858
- ClinGen CA120868
- cosmic curated COSV52355
- ClinVar RCV000010663
- Pathogenic
- Danon disease; Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.13
- MetaLR 0.22
- MetaSVM -0.60
- PolyPhen-2 0.03
- SIFT 0.04
- MutPred 0.74
- ClinVar: Pathogenic (Danon disease; Hypertrophic cardiomyopathy; Cardiovascular pheno)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glycogen storage diseases presenting as hypertrophic cardiomyopathy. (PMID 15673802)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)