p.Glu20 Glu21insGln variant of ALMS1 (Q8TCU4)
p.Glu20 Glu21insGln in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Glu20 Glu21insGln variant details
- rs1553396137
- gnomAD 2-73385926-G-GAGC
- Inframe Insertion
- CADD 11.40
- Population evidence available
- Literature evidence available