E27G (p.Glu27Gly) variant of ALMS1 (Q8TCU4)
E27G (p.Glu27Gly) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions and population frequency data.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- TOPMed rs1016245881
- gnomAD rs1016245881
- Missense
- MetaLR 0.03
- MetaSVM -1.02
- CADD 12.20
- PolyPhen-2 0.05
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)