E26K (p.Glu26Lys) variant of ALMS1 (Q8TCU4)
E26K (p.Glu26Lys) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- gnomAD 2-73385944-G-A
- Missense
- MetaLR 0.03
- MetaSVM -0.99
- CADD 16.00
- PolyPhen-2 0.95
- SIFT 0.36
- Population evidence available
- Literature evidence available