E25D (p.Glu25Asp) variant of ALMS1 (Q8TCU4)
E25D (p.Glu25Asp) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E25D (p.Glu25Asp) variant details
- p.Glu25Asp
- gnomAD 2-73385943-A-C
- Missense
- MetaLR 0.03
- MetaSVM -1.05
- CADD 8.23
- PolyPhen-2 0.17
- SIFT 0.28
- Population evidence available
- Literature evidence available