E17G (p.Glu17Gly) variant of ALMS1 (Q8TCU4)
E17G (p.Glu17Gly) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- rs2104057087
- gnomAD 2-73385915-AGGAGG
- Frameshift
- CADD 27.30
- Population evidence available
- Literature evidence available