E6D (p.Glu6Asp) variant of SPTB (Spectrin beta chain, erythrocytic)
E6D (p.Glu6Asp) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- ExAC rs753928319
- TOPMed rs753928319
- gnomAD rs753928319
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- MetaLR 0.09
- MetaSVM -0.97
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available