E51V (p.Glu51Val) variant of SPTB (Spectrin beta chain, erythrocytic)
E51V (p.Glu51Val) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The record also includes variant effect predictions.
E51V (p.Glu51Val) variant details
- p.Glu51Val
- TOPMed rs1157089669
- gnomAD rs1157089669
- Missense
- MetaLR 0.40
- MetaSVM -0.15
- SIFT 0.01