E21Q (p.Glu21Gln) variant of ALMS1 (Q8TCU4)
E21Q (p.Glu21Gln) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E21Q (p.Glu21Gln) variant details
- p.Glu21Gln
- gnomAD 2-73385929-G-C
- Missense
- MetaLR 0.03
- MetaSVM -1.05
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Literature evidence available