E23R (p.Glu23Arg) variant of ALMS1 (Q8TCU4)
E23R (p.Glu23Arg) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E23R (p.Glu23Arg) variant details
- p.Glu23Arg
- gnomAD 2-73385933-AGGAG-
- Frameshift
- CADD 20.40
- Population evidence available
- Literature evidence available