A119S (p.Ala119Ser) variant of STAT1 (P42224)
A119S (p.Ala119Ser) in STAT1 (P42224) 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 0.52 / 1. The record also includes population frequency data and structural context.
A119S (p.Ala119Ser) variant details
- p.Ala119Ser
- TOPMed rs1482374494
- gnomAD rs1482374494
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.33
- CADD 25.80
- PolyPhen-2 0.94
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available