E27A (p.Glu27Ala) variant of ALMS1 (Q8TCU4)
E27A (p.Glu27Ala) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- gnomAD 2-73385947-G-GCTG
- Frameshift
- CADD 21.40
- Population evidence available
- Literature evidence available