S140R (p.Ser140Arg) variant of STAT2 (P52630)
S140R (p.Ser140Arg) in STAT2 (P52630) 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 0.26 / 1. The record also includes population frequency data and structural context.
S140R (p.Ser140Arg) variant details
- p.Ser140Arg
- ExAC rs758869093
- TOPMed rs758869093
- gnomAD rs758869093
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.15
- CADD 22.60
- PolyPhen-2 0.46
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available