R156P (p.Arg156Pro) variant of SPTB (Spectrin beta chain, erythrocytic)
R156P (p.Arg156Pro) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spherocytosis type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1.
R156P (p.Arg156Pro) variant details
- p.Arg156Pro
- rs767566180
- ClinGen CA390034260
- ClinVar RCV002291041
- Pathogenic
- Hereditary spherocytosis type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.81
- MetaLR 0.34
- MetaSVM -0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Hereditary spherocytosis type 2)
- EBI: Pathogenic
- UniProt: Pathogenic