R17W (p.Arg17Trp) variant of STAT6 (P42226)
R17W (p.Arg17Trp) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R17W (p.Arg17Trp) variant details
- p.Arg17Trp
- TOPMed rs1462316171
- gnomAD rs1462316171
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.24
- CADD 28.70
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available