E9V (p.Glu9Val) variant of NEB (Nebulin)
E9V (p.Glu9Val) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and experimental measurements.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- TOPMed rs2099813079
- Missense
- MetaLR 0.04
- MetaSVM -1.14
- SIFT 0.00
- NEB SH3 domain domainome 1.0: score -0.791