E24D (p.Glu24Asp) variant of ALMS1 (Q8TCU4)
E24D (p.Glu24Asp) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- gnomAD 2-73385940-G-T
- Missense
- MetaLR 0.02
- MetaSVM -0.99
- CADD 15.20
- PolyPhen-2 0.95
- SIFT 0.27
- Population evidence available
- Literature evidence available