p.Asp5 Glu20del variant of ALMS1 (Q8TCU4)
p.Asp5 Glu20del in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Asp5 Glu20del variant details
- gnomAD 2-73385877-CGAGGA
- Inframe Deletion
- CADD 20.90
- Population evidence available
- Literature evidence available