E2Q (p.Glu2Gln) variant of ALMS1 (Q8TCU4)
E2Q (p.Glu2Gln) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions and population frequency data.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- TOPMed rs1670504473
- Missense
- MetaLR 0.07
- MetaSVM -1.11
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)