E18D (p.Glu18Asp) variant of ALMS1 (Q8TCU4)
E18D (p.Glu18Asp) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- gnomAD 2-73385922-G-C
- Missense
- MetaLR 0.03
- MetaSVM -1.04
- CADD 20.60
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Literature evidence available