Q20R (p.Gln20Arg) variant of STAT2 (P52630)
Q20R (p.Gln20Arg) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- TOPMed rs1323204124
- gnomAD rs1323204124
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.13
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 0.0013)
- Structural context available