p.Glu17 Glu28del variant of ALMS1 (Q8TCU4)
p.Glu17 Glu28del in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Glu17 Glu28del variant details
- gnomAD 2-73385907-GGAGGA
- Inframe Deletion
- CADD 21.20
- Population evidence available
- Literature evidence available