A47T (p.Ala47Thr) variant of SPTB (Spectrin beta chain, erythrocytic)
A47T (p.Ala47Thr) 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.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- TOPMed rs1336011098
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- MetaLR 0.15
- MetaSVM -0.92
- CADD 23.70
- PolyPhen-2 0.08
- SIFT 0.01
- Population evidence available