Q125R (p.Gln125Arg) variant of STAT6 (P42226)
Q125R (p.Gln125Arg) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q125R (p.Gln125Arg) variant details
- p.Gln125Arg
- gnomAD rs1211079828
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.10
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.16
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available