Q129K (p.Gln129Lys) variant of NEB (Nebulin)
Q129K (p.Gln129Lys) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
Q129K (p.Gln129Lys) variant details
- p.Gln129Lys
- ExAC rs781629280
- gnomAD rs781629280
- Missense
- REVEL 0.27
- MetaLR 0.27
- MetaSVM -0.75
- CADD 25.90
- PolyPhen-2 0.13
- SIFT 1.00
- Population evidence available