E24K (p.Glu24Lys) variant of ALMS1 (Q8TCU4)
E24K (p.Glu24Lys) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- gnomAD 2-73385936-AGGAG-
- Frameshift
- CADD 19.10
- Population evidence available
- Literature evidence available