E27D (p.Glu27Asp) variant of ALMS1 (Q8TCU4)
E27D (p.Glu27Asp) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- gnomAD 2-73385949-G-T
- Missense
- MetaLR 0.03
- MetaSVM -1.05
- CADD 18.20
- PolyPhen-2 0.51
- SIFT 0.27
- Population evidence available
- Literature evidence available