R38S (p.Arg38Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
R38S (p.Arg38Ser) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1.
R38S (p.Arg38Ser) variant details
- p.Arg38Ser
- rs375967688
- ESP rs375967688
- ExAC rs375967688
- TOPMed rs375967688
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.94
- MetaLR 0.19
- MetaSVM -0.85
- PolyPhen-2 0.99
- SIFT 0.16
- MutPred 0.32
- UniProt: Variant assessed as somatic; moderate impact.