E24A (p.Glu24Ala) variant of ALMS1 (Q8TCU4)
E24A (p.Glu24Ala) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E24A (p.Glu24Ala) variant details
- p.Glu24Ala
- gnomAD 2-73385939-A-C
- Missense
- MetaLR 0.01
- MetaSVM -1.06
- CADD 8.28
- PolyPhen-2 0.66
- SIFT 0.35
- Population evidence available
- Literature evidence available