E51G (p.Glu51Gly) variant of SPTB (Spectrin beta chain, erythrocytic)
E51G (p.Glu51Gly) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
E51G (p.Glu51Gly) variant details
- p.Glu51Gly
- TOPMed rs1157089669
- gnomAD rs1157089669
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- MetaLR 0.43
- MetaSVM 0.00
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available