T2040I (p.Thr2040Ile) variant of SPTB (Spectrin beta chain, erythrocytic)
T2040I (p.Thr2040Ile) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spherocytosis type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1.
T2040I (p.Thr2040Ile) variant details
- p.Thr2040Ile
- rs1345709572
- ClinGen CA390039382
- ClinVar RCV001089997
- gnomAD rs1345709572
- Likely pathogenic
- Hereditary spherocytosis type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 0.77
- MetaLR 0.32
- MetaSVM -0.35
- PolyPhen-2 0.76
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Hereditary spherocytosis type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic