Q47* (p.Gln47Ter) variant of LAMP2 (P13473)
Q47* (p.Gln47Ter) 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 0.44 / 1. The record also includes population frequency data and published literature.
Q47* (p.Gln47Ter) variant details
- p.Gln47Ter
- rs2147287624
- ClinGen CA414403653
- ClinVar RCV001594455
- ClinVar RCV001871756
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 36.00
- 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)