R53C (p.Arg53Cys) variant of LAMP2 (P13473)
R53C (p.Arg53Cys) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Danon disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and published literature.
R53C (p.Arg53Cys) variant details
- p.Arg53Cys
- rs752321157
- ClinGen CA10505344
- cosmic curated COSV10874
- ClinVar RCV000400396
- Benign/Likely benign
- Cardiovascular phenotype; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.12
- CADD 15.40
- PolyPhen-2 0.44
- SIFT 0.03
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Danon disease)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00037)
- 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)