E15V (p.Glu15Val) variant of ALMS1 (Q8TCU4)
E15V (p.Glu15Val) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E15V (p.Glu15Val) variant details
- p.Glu15Val
- gnomAD 2-73385912-A-T
- Missense
- MetaLR 0.08
- MetaSVM -1.11
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Literature evidence available