E26G (p.Glu26Gly) variant of ALMS1 (Q8TCU4)
E26G (p.Glu26Gly) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- gnomAD 2-73385943-A-AGGA
- Frameshift
- CADD 14.20
- Population evidence available
- Literature evidence available