R148Q (p.Arg148Gln) variant of STAT6 (P42226)
R148Q (p.Arg148Gln) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R148Q (p.Arg148Gln) variant details
- p.Arg148Gln
- ExAC rs773043322
- TOPMed rs773043322
- gnomAD rs773043322
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.09
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available