E21* (p.Glu21Ter) variant of ALMS1 (Q8TCU4)
E21* (p.Glu21Ter) 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.
E21* (p.Glu21Ter) variant details
- p.Glu21Ter
- rs1438410766
- ClinGen CA347250516
- ClinVar RCV001883877
- TOPMed rs1438410766
- Pathogenic
- Stop Gained
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 4.8e-05)
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)