D50E (p.Asp50Glu) variant of SPTB (Spectrin beta chain, erythrocytic)
D50E (p.Asp50Glu) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
D50E (p.Asp50Glu) variant details
- p.Asp50Glu
- gnomAD rs1566775649
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- MetaLR 0.14
- MetaSVM -0.98
- CADD 20.20
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available