E4* (p.Glu4Ter) variant of ALMS1 (Q8TCU4)
E4* (p.Glu4Ter) in ALMS1 (Q8TCU4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
E4* (p.Glu4Ter) variant details
- p.Glu4Ter
- rs1553396092
- ClinGen CA347250350
- ClinVar RCV000670265
- Ensembl rs1553396092
- Likely pathogenic
- Stop Gained
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)