E67G (p.Glu67Gly) variant of NEB (Nebulin)
E67G (p.Glu67Gly) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
E67G (p.Glu67Gly) variant details
- p.Glu67Gly
- TOPMed rs1463987093
- gnomAD rs1463987093
- Missense
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.96
- CADD 14.90
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)