P7H (p.Pro7His) variant of ALMS1 (Q8TCU4)
P7H (p.Pro7His) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
P7H (p.Pro7His) variant details
- p.Pro7His
- gnomAD 2-73385885-TG-T
- Frameshift
- CADD 11.30
- Population evidence available
- Literature evidence available