E98D (p.Glu98Asp) variant of SPTB (Spectrin beta chain, erythrocytic)
E98D (p.Glu98Asp) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
E98D (p.Glu98Asp) variant details
- p.Glu98Asp
- ExAC rs754403061
- gnomAD rs754403061
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- MetaLR 0.16
- MetaSVM -0.85
- CADD 22.60
- SIFT 0.00
- Population evidence available