E37* (p.Glu37Ter) variant of LAMP2 (P13473)
E37* (p.Glu37Ter) 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 0.51 / 1. The record also includes population frequency data.
E37* (p.Glu37Ter) variant details
- p.Glu37Ter
- rs2520913315
- ClinGen CA414403723
- ClinVar RCV002455582
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 29.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available