R53L (p.Arg53Leu) variant of LAMP2 (P13473)
R53L (p.Arg53Leu) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and published literature.
R53L (p.Arg53Leu) variant details
- p.Arg53Leu
- rs397516735
- ClinGen CA335014093
- ClinVar RCV002624719
- 1000Genomes rs397516735
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0551
- REVEL 0.06
- CADD 0.17
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (Danon disease)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- 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)