R22L (p.Arg22Leu) variant of SPTB (Spectrin beta chain, erythrocytic)
R22L (p.Arg22Leu) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- ExAC rs200116664
- TOPMed rs200116664
- gnomAD rs200116664
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- MetaLR 0.57
- MetaSVM 0.21
- CADD 25.90
- PolyPhen-2 0.46
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available