E29* (p.Glu29Ter) variant of SPTB (Spectrin beta chain, erythrocytic)
E29* (p.Glu29Ter) 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 0.42 / 1.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- rs777962458
- ClinGen CA390038307
- ClinVar RCV002291049
- ClinVar RCV003688951
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.20
- MetaLR 0.29
- MetaSVM -0.52
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.43
- EBI: Pathogenic
- UniProt: Pathogenic