E121Q (p.Glu121Gln) variant of NEB (Nebulin)
E121Q (p.Glu121Gln) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
E121Q (p.Glu121Gln) variant details
- p.Glu121Gln
- ExAC rs749419926
- gnomAD rs749419926
- Missense
- REVEL 0.32
- MetaLR 0.39
- MetaSVM -0.48
- CADD 23.70
- PolyPhen-2 0.88
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)