E23V (p.Glu23Val) variant of ALMS1 (Q8TCU4)
E23V (p.Glu23Val) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E23V (p.Glu23Val) variant details
- p.Glu23Val
- gnomAD 2-73385936-A-T
- Missense
- MetaLR 0.02
- MetaSVM -1.00
- CADD 7.49
- PolyPhen-2 0.05
- SIFT 0.22
- Population evidence available
- Literature evidence available