R140Q (p.Arg140Gln) variant of STAT6 (P42226)
R140Q (p.Arg140Gln) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R140Q (p.Arg140Gln) variant details
- p.Arg140Gln
- ExAC rs745470547
- gnomAD rs745470547
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.07
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the South Asian population (allele frequency 0.00026)
- Structural context available