E21D (p.Glu21Asp) variant of ALMS1 (Q8TCU4)
E21D (p.Glu21Asp) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E21D (p.Glu21Asp) variant details
- p.Glu21Asp
- gnomAD 2-73385931-G-T
- Missense
- MetaLR 0.03
- MetaSVM -1.04
- CADD 22.80
- PolyPhen-2 0.95
- SIFT 0.07
- Population evidence available
- Literature evidence available