E28A (p.Glu28Ala) variant of ALMS1 (Q8TCU4)
E28A (p.Glu28Ala) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions and population frequency data.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- Ensembl rs2104057924
- Missense
- MetaLR 0.03
- MetaSVM -1.02
- CADD 7.28
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)