E19V (p.Glu19Val) variant of ALMS1 (Q8TCU4)
E19V (p.Glu19Val) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E19V (p.Glu19Val) variant details
- p.Glu19Val
- gnomAD 2-73385924-A-T
- Missense
- MetaLR 0.02
- MetaSVM -0.99
- CADD 14.40
- PolyPhen-2 0.99
- SIFT 0.11
- Population evidence available
- Literature evidence available