D50G (p.Asp50Gly) variant of SPTB (Spectrin beta chain, erythrocytic)
D50G (p.Asp50Gly) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- TOPMed rs2082957654
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- MetaLR 0.25
- MetaSVM -0.52
- CADD 24.30
- PolyPhen-2 0.37
- SIFT 0.01
- Population evidence available