R156C (p.Arg156Cys) variant of SPTB (Spectrin beta chain, erythrocytic)
R156C (p.Arg156Cys) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
R156C (p.Arg156Cys) variant details
- p.Arg156Cys
- ExAC rs775430901
- TOPMed rs775430901
- gnomAD rs775430901
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- MetaLR 0.42
- MetaSVM -0.16
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available