W8* (p.Trp8Ter) variant of ALMS1 (Q8TCU4)
W8* (p.Trp8Ter) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
W8* (p.Trp8Ter) variant details
- p.Trp8Ter
- gnomAD 2-73385892-G-A
- Stop Gained
- CADD 36.00
- Population evidence available
- Literature evidence available