E11V (p.Glu11Val) variant of ALMS1 (Q8TCU4)
E11V (p.Glu11Val) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E11V (p.Glu11Val) variant details
- p.Glu11Val
- gnomAD 2-73385900-A-T
- Missense
- MetaLR 0.08
- MetaSVM -1.11
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available