E28G (p.Glu28Gly) variant of ALMS1 (Q8TCU4)
E28G (p.Glu28Gly) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- gnomAD 2-73385951-A-G
- Missense
- MetaLR 0.05
- MetaSVM -1.00
- CADD 12.90
- PolyPhen-2 0.28
- SIFT 0.12
- Population evidence available
- Literature evidence available