S140N (p.Ser140Asn) variant of STAT2 (P52630)
S140N (p.Ser140Asn) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S140N (p.Ser140Asn) variant details
- p.Ser140Asn
- TOPMed rs978513029
- gnomAD rs978513029
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.03
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available