E16A (p.Glu16Ala) variant of ALMS1 (Q8TCU4)
E16A (p.Glu16Ala) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E16A (p.Glu16Ala) variant details
- p.Glu16Ala
- gnomAD 2-73385915-A-C
- Missense
- MetaLR 0.08
- MetaSVM -1.11
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.04
- Population evidence available
- Literature evidence available