E11D (p.Glu11Asp) variant of ALMS1 (Q8TCU4)
E11D (p.Glu11Asp) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- gnomAD 2-73385901-G-T
- Missense
- MetaLR 0.08
- MetaSVM -1.10
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Literature evidence available