E27K (p.Glu27Lys) variant of ALMS1 (Q8TCU4)
E27K (p.Glu27Lys) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- gnomAD 2-73385947-G-A
- Missense
- MetaLR 0.03
- MetaSVM -1.02
- CADD 13.10
- PolyPhen-2 0.36
- SIFT 0.32
- Population evidence available
- Literature evidence available