E25* (p.Glu25Ter) variant of ALMS1 (Q8TCU4)
E25* (p.Glu25Ter) 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.
E25* (p.Glu25Ter) variant details
- p.Glu25Ter
- rs1285425883
- ClinGen CA347250547
- ClinVar RCV001931192
- Ensembl rs1285425883
- Pathogenic
- Stop Gained
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)