E22E (p.Glu22Glu) variant of ALMS1 (Q8TCU4)
E22E (p.Glu22Glu) in ALMS1 (Q8TCU4) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E22E (p.Glu22Glu) variant details
- p.Glu22Glu
- rs1574423753
- gnomAD 2-73385934-G-A
- Synonymous
- CADD 3.93
- Population evidence available
- Literature evidence available