E19D (p.Glu19Asp) variant of ALMS1 (Q8TCU4)
E19D (p.Glu19Asp) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- gnomAD 2-73385925-G-T
- Missense
- MetaLR 0.02
- MetaSVM -0.98
- CADD 15.40
- PolyPhen-2 0.97
- SIFT 0.06
- Population evidence available
- Literature evidence available