R88Q (p.Arg88Gln) variant of STAT2 (P52630)
R88Q (p.Arg88Gln) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R88Q (p.Arg88Gln) variant details
- p.Arg88Gln
- ESP rs138926222
- ExAC rs138926222
- TOPMed rs138926222
- gnomAD rs138926222
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.24
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available