E16V (p.Glu16Val) variant of ALMS1 (Q8TCU4)
E16V (p.Glu16Val) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E16V (p.Glu16Val) variant details
- p.Glu16Val
- gnomAD 2-73385915-A-T
- Missense
- MetaLR 0.08
- MetaSVM -1.11
- CADD 24.00
- PolyPhen-2 0.23
- SIFT 0.02
- Population evidence available
- Literature evidence available