P3I (p.Pro3Ile) variant of ALMS1 (Q8TCU4)
P3I (p.Pro3Ile) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
P3I (p.Pro3Ile) variant details
- p.Pro3Ile
- gnomAD 2-73385874-G-GAT
- Frameshift
- CADD 28.80
- Population evidence available
- Literature evidence available