E21A (p.Glu21Ala) variant of ALMS1 (Q8TCU4)
E21A (p.Glu21Ala) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E21A (p.Glu21Ala) variant details
- p.Glu21Ala
- gnomAD 2-73385930-A-C
- Missense
- MetaLR 0.02
- MetaSVM -1.01
- CADD 21.40
- PolyPhen-2 0.95
- SIFT 0.14
- Population evidence available
- Literature evidence available