E51* (p.Glu51Ter) variant of SPTB (Spectrin beta chain, erythrocytic)
E51* (p.Glu51Ter) in SPTB (Spectrin beta chain, erythrocytic) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1.
E51* (p.Glu51Ter) variant details
- p.Glu51Ter
- rs751809792
- ClinGen CA390036260
- ClinVar RCV002291059
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.528
- AlphaMissense 0.91
- MetaLR 0.49
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.39
- EBI: Pathogenic
- UniProt: Pathogenic