S135Y (p.Ser135Tyr) variant of SPTB (Spectrin beta chain, erythrocytic)
S135Y (p.Ser135Tyr) 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 not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1.
S135Y (p.Ser135Tyr) variant details
- p.Ser135Tyr
- rs2139637283
- ClinGen CA390034694
- ClinVar RCV001870385
- ClinVar RCV005232685
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- AlphaMissense 0.91
- MetaLR 0.38
- MetaSVM -0.25
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance