C108S (p.Cys108Ser) variant of STAT5B (P51692)
C108S (p.Cys108Ser) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, 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 0.33 / 1. The record also includes structural context.
C108S (p.Cys108Ser) variant details
- p.Cys108Ser
- rs2080259763
- ClinGen CA399590879
- ClinVar RCV002211399
- TOPMed rs2080259763
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.57
- MetaLR 0.18
- MetaSVM -0.79
- PolyPhen-2 0.25
- SIFT 0.06
- EVE 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available