E26V (p.Glu26Val) variant of ALMS1 (Q8TCU4)
E26V (p.Glu26Val) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E26V (p.Glu26Val) variant details
- p.Glu26Val
- gnomAD 2-73385945-A-T
- Missense
- MetaLR 0.04
- MetaSVM -0.97
- CADD 21.10
- PolyPhen-2 0.97
- SIFT 0.22
- Population evidence available
- Literature evidence available