p.Glu21 Glu22insLys variant of ALMS1 (Q8TCU4)
p.Glu21 Glu22insLys in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Glu21 Glu22insLys variant details
- rs905301935
- gnomAD 2-73385929-G-GAGA
- Inframe Insertion
- CADD 14.50
- Population evidence available
- Literature evidence available