E2A (p.Glu2Ala) variant of ALMS1 (Q8TCU4)
E2A (p.Glu2Ala) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- gnomAD 2-73385872-G-GC
- Frameshift
- CADD 29.30
- Population evidence available
- Literature evidence available