T2A (p.Thr2Ala) variant of SPTB (Spectrin beta chain, erythrocytic)
T2A (p.Thr2Ala) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- ExAC rs750322310
- gnomAD rs750322310
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- MetaLR 0.16
- MetaSVM -0.75
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available