D68E (p.Asp68Glu) variant of LAMP2 (P13473)
D68E (p.Asp68Glu) 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D68E (p.Asp68Glu) variant details
- p.Asp68Glu
- rs376215728
- ClinGen CA10505334
- ClinVar RCV000429123
- ClinVar RCV000638580
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.085
- REVEL 0.04
- CADD 0.43
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Danon disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.9e-05)
- Structural context available
- 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)