R5L (p.Arg5Leu) variant of LAMP2 (P13473)
R5L (p.Arg5Leu) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- rs1921666685
- ClinGen CA414398058
- ClinVar RCV001799286
- ClinVar RCV002544359
- Uncertain significance
- Cardiomyopathy; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.20
- MetaLR 0.23
- MetaSVM -0.82
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.56
- ClinVar: Uncertain significance (Cardiomyopathy; Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)