E23E (p.Glu23Glu) variant of ALMS1 (Q8TCU4)
E23E (p.Glu23Glu) in ALMS1 (Q8TCU4) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
E23E (p.Glu23Glu) variant details
- p.Glu23Glu
- rs1054040147
- gnomAD 2-73385937-G-A
- Synonymous
- CADD 3.65
- Population evidence available
- Literature evidence available