T117K (p.Thr117Lys) variant of NEB (Nebulin)
T117K (p.Thr117Lys) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions.
T117K (p.Thr117Lys) variant details
- p.Thr117Lys
- cosmic curated COSV51469
- Missense
- MetaLR 0.01
- MetaSVM -0.91
- SIFT 0.32