Y43* (p.Tyr43Ter) variant of LAMP2 (P13473)
Y43* (p.Tyr43Ter) in LAMP2 (P13473) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
Y43* (p.Tyr43Ter) variant details
- p.Tyr43Ter
- rs2520913146
- ClinGen CA414403677
- ClinVar RCV002941902
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)