C71G (p.Cys71Gly) variant of STAT2 (P52630)
C71G (p.Cys71Gly) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
C71G (p.Cys71Gly) variant details
- p.Cys71Gly
- TOPMed rs1879488345
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.09
- CADD 17.00
- PolyPhen-2 0.13
- SIFT 0.28
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available