E25A (p.Glu25Ala) variant of ALMS1 (Q8TCU4)
E25A (p.Glu25Ala) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E25A (p.Glu25Ala) variant details
- p.Glu25Ala
- gnomAD 2-73385942-A-C
- Missense
- MetaLR 0.04
- MetaSVM -0.99
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.50
- Population evidence available
- Literature evidence available