R52W (p.Arg52Trp) variant of SPTB (Spectrin beta chain, erythrocytic)
R52W (p.Arg52Trp) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary spherocytosis type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
R52W (p.Arg52Trp) variant details
- p.Arg52Trp
- rs1594796374
- ClinGen CA390036247
- cosmic curated COSV67631
- ClinVar RCV001027528
- Conflicting interpretations
- not provided; Hereditary spherocytosis type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.95
- MetaLR 0.32
- MetaSVM -0.42
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary spherocytosis type 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available