R53H (p.Arg53His) variant of LAMP2 (P13473)
R53H (p.Arg53His) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data and published literature.
R53H (p.Arg53His) variant details
- p.Arg53His
- rs397516735
- ClinGen CA134071
- ClinVar RCV000037406
- ClinVar RCV001521516
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0313
- REVEL 0.01
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Danon disease)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:STU population (allele frequency 0.0073)
- 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)