R83W (p.Arg83Trp) variant of SPTB (Spectrin beta chain, erythrocytic)
R83W (p.Arg83Trp) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
R83W (p.Arg83Trp) variant details
- p.Arg83Trp
- ExAC rs758726427
- TOPMed rs758726427
- gnomAD rs758726427
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- MetaLR 0.51
- MetaSVM 0.20
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available