E51K (p.Glu51Lys) variant of SPTB (Spectrin beta chain, erythrocytic)
E51K (p.Glu51Lys) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- ExAC rs751809792
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- AlphaMissense 0.91
- MetaLR 0.49
- MetaSVM 0.17
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available