p.Glu17 Glu18insLys variant of ALMS1 (Q8TCU4)
p.Glu17 Glu18insLys in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Glu17 Glu18insLys variant details
- gnomAD 2-73385917-G-GAGA
- Inframe Insertion
- CADD 20.90
- Population evidence available
- Literature evidence available