R2064P (p.Arg2064Pro) variant of SPTB (Spectrin beta chain, erythrocytic)
R2064P (p.Arg2064Pro) 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 Elliptocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature.
R2064P (p.Arg2064Pro) variant details
- p.Arg2064Pro
- rs121918650
- ClinGen CA122745
- ClinVar RCV000013692
- ExAC rs121918650
- Pathogenic
- Elliptocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.68
- MetaLR 0.34
- MetaSVM -0.35
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Elliptocytosis 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. (PMID 9163587)