p.Glu27 Glu28insAsp variant of ALMS1 (Q8TCU4)
p.Glu27 Glu28insAsp in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
p.Glu27 Glu28insAsp variant details
- gnomAD 2-73385949-G-GGAC
- Inframe Insertion
- CADD 13.30
- Population evidence available
- Literature evidence available