N160S (p.Asn160Ser) variant of STAT5B (P51692)
N160S (p.Asn160Ser) in STAT5B (P51692) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
N160S (p.Asn160Ser) variant details
- p.Asn160Ser
- ExAC rs764319884
- TOPMed rs764319884
- gnomAD rs764319884
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.15
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available