E21E (p.Glu21Glu) variant of ALMS1 (Q8TCU4)
E21E (p.Glu21Glu) in ALMS1 (Q8TCU4) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E21E (p.Glu21Glu) variant details
- p.Glu21Glu
- rs1004961829
- gnomAD 2-73385931-G-A
- Synonymous
- CADD 8.30
- Population evidence available
- Literature evidence available