E106D (p.Glu106Asp) variant of NEB (Nebulin)
E106D (p.Glu106Asp) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
E106D (p.Glu106Asp) variant details
- p.Glu106Asp
- gnomAD rs2099787921
- Missense
- REVEL 0.11
- MetaLR 0.18
- MetaSVM -0.85
- CADD 23.10
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)