Q126R (p.Gln126Arg) variant of STAT1 (P42224)
Q126R (p.Gln126Arg) in STAT1 (P42224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q126R (p.Gln126Arg) variant details
- p.Gln126Arg
- ExAC rs748265365
- gnomAD rs748265365
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.16
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available