E2* (p.Glu2Ter) variant of ALMS1 (Q8TCU4)
E2* (p.Glu2Ter) in ALMS1 (Q8TCU4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- rs1670504473
- ClinGen CA347250331
- ClinVar RCV002867716
- Pathogenic
- Stop Gained
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)