E16* (p.Glu16Ter) variant of ALMS1 (Q8TCU4)
E16* (p.Glu16Ter) 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 and published literature.
E16* (p.Glu16Ter) variant details
- p.Glu16Ter
- rs1174023229
- ClinGen CA347250477
- ClinVar RCV003502112
- TOPMed rs1174023229
- Pathogenic
- Stop Gained
- AlphaMissense 0.21
- MetaLR 0.04
- MetaSVM -1.07
- PolyPhen-2 0.70
- MutPred 0.09
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)