E4G (p.Glu4Gly) variant of ALMS1 (Q8TCU4)
E4G (p.Glu4Gly) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions and population frequency data.
E4G (p.Glu4Gly) variant details
- p.Glu4Gly
- gnomAD rs1232846337
- Missense
- MetaLR 0.08
- MetaSVM -1.11
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)