E24V (p.Glu24Val) variant of ALMS1 (Q8TCU4)
E24V (p.Glu24Val) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E24V (p.Glu24Val) variant details
- p.Glu24Val
- gnomAD 2-73385939-A-T
- Missense
- MetaLR 0.02
- MetaSVM -1.06
- CADD 11.60
- PolyPhen-2 0.96
- SIFT 0.15
- Population evidence available
- Literature evidence available