G126A (p.Gly126Ala) variant of STAT3 (P40763)
G126A (p.Gly126Ala) in STAT3 (P40763) 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 0.56 / 1. The record also includes population frequency data and structural context.
G126A (p.Gly126Ala) variant details
- p.Gly126Ala
- ExAC rs777883261
- gnomAD rs777883261
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.43
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available