T56A (p.Thr56Ala) variant of LAMP2 (P13473)
T56A (p.Thr56Ala) 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 0.19 / 1. The record also includes population frequency data and published literature.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- rs2147287602
- ClinGen CA414403588
- ClinVar RCV001889890
- Ensembl rs2147287602
- Uncertain significance
- Danon disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.12
- CADD 20.50
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence 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)