C41* (p.Cys41Ter) variant of LAMP2 (P13473)
C41* (p.Cys41Ter) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C41* (p.Cys41Ter) variant details
- p.Cys41Ter
- rs1921109201
- ClinGen CA414403691
- ClinVar RCV003510192
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)