W8C (p.Trp8Cys) variant of ALMS1 (Q8TCU4)
W8C (p.Trp8Cys) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
W8C (p.Trp8Cys) variant details
- p.Trp8Cys
- gnomAD 2-73385891-G-GTTG
- Frameshift
- CADD 27.20
- Population evidence available
- Literature evidence available