G44C (p.Gly44Cys) variant of STAT6 (P42226)
G44C (p.Gly44Cys) in STAT6 (P42226) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
G44C (p.Gly44Cys) variant details
- p.Gly44Cys
- TOPMed rs757430778
- gnomAD rs757430778
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.21
- CADD 21.60
- PolyPhen-2 0.78
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available