E21V (p.Glu21Val) variant of ALMS1 (Q8TCU4)
E21V (p.Glu21Val) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E21V (p.Glu21Val) variant details
- p.Glu21Val
- gnomAD 2-73385930-A-T
- Missense
- MetaLR 0.03
- MetaSVM -1.00
- CADD 22.20
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Literature evidence available