p.Glu19 Glu20insTer variant of ALMS1 (Q8TCU4)
p.Glu19 Glu20insTer in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Glu19 Glu20insTer variant details
- rs1574423697
- gnomAD 2-73385920-G-GAGG
- Stop Gained
- CADD 21.90
- Population evidence available
- Literature evidence available