E20E (p.Glu20Glu) variant of ALMS1 (Q8TCU4)
E20E (p.Glu20Glu) in ALMS1 (Q8TCU4) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E20E (p.Glu20Glu) variant details
- p.Glu20Glu
- rs183407241
- gnomAD 2-73385928-G-A
- Synonymous
- CADD 7.62
- Population evidence available
- Literature evidence available