W202R (p.Trp202Arg) variant of SPTB (Spectrin beta chain, erythrocytic)
W202R (p.Trp202Arg) 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 0.80 / 1. The record also includes published literature.
W202R (p.Trp202Arg) variant details
- p.Trp202Arg
- rs121918646
- ClinGen CA122736
- ClinVar RCV000013684
- UniProt VAR 001352
- Pathogenic
- Hereditary spherocytosis type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Hereditary spherocytosis type 2)
- EBI: Pathogenic (in SPH2)
- UniProt: Pathogenic (in SPH2)
- Cited in: A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. (PMID 6215583)
- Cited in: Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective… (PMID 8102379)