E4Q (p.Glu4Gln) variant of ALMS1 (Q8TCU4)
E4Q (p.Glu4Gln) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E4Q (p.Glu4Gln) variant details
- p.Glu4Gln
- gnomAD 2-73385878-G-C
- Missense
- MetaLR 0.09
- MetaSVM -1.10
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available