R124K (p.Arg124Lys) variant of NEB (Nebulin)
R124K (p.Arg124Lys) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions.
R124K (p.Arg124Lys) variant details
- p.Arg124Lys
- cosmic curated COSV10724
- Missense
- MetaLR 0.37
- MetaSVM -0.33
- SIFT 0.21