p.Glu18 Glu19insVal variant of ALMS1 (Q8TCU4)
p.Glu18 Glu19insVal in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Glu18 Glu19insVal variant details
- gnomAD 2-73385921-A-AGGT
- Inframe Insertion
- CADD 9.59
- Population evidence available
- Literature evidence available