p.Glu22 Glu23insLys variant of ALMS1 (Q8TCU4)
p.Glu22 Glu23insLys in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Glu22 Glu23insLys variant details
- rs777844728
- gnomAD 2-73385932-G-GAGA
- Inframe Insertion
- CADD 10.30
- Population evidence available
- Literature evidence available