S187F (p.Ser187Phe) variant of STAT2 (P52630)
S187F (p.Ser187Phe) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S187F (p.Ser187Phe) variant details
- p.Ser187Phe
- ExAC rs750586683
- TOPMed rs750586683
- gnomAD rs750586683
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.27
- CADD 19.20
- PolyPhen-2 0.99
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available