D5A (p.Asp5Ala) variant of ALMS1 (Q8TCU4)
D5A (p.Asp5Ala) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
D5A (p.Asp5Ala) variant details
- p.Asp5Ala
- gnomAD 2-73385881-GAT-G
- Frameshift
- CADD 26.10
- Population evidence available
- Literature evidence available