S66W (p.Ser66Trp) variant of SPTB (Spectrin beta chain, erythrocytic)
S66W (p.Ser66Trp) 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 0.77 / 1. The record also includes population frequency data.
S66W (p.Ser66Trp) variant details
- p.Ser66Trp
- TOPMed rs1242475998
- gnomAD rs1242475998
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- MetaLR 0.93
- MetaSVM 1.06
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available