I138T (p.Ile138Thr) variant of SPTB (Spectrin beta chain, erythrocytic)
I138T (p.Ile138Thr) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary spherocytosis type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1.
I138T (p.Ile138Thr) variant details
- p.Ile138Thr
- rs2082930394
- ClinGen CA390034619
- ClinVar RCV001262268
- ClinVar RCV001812264
- Uncertain significance
- not provided; Hereditary spherocytosis type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.91
- MetaLR 0.64
- MetaSVM 0.40
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (not provided; Hereditary spherocytosis type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance