R107Q (p.Arg107Gln) variant of STAT3 (P40763)
R107Q (p.Arg107Gln) in STAT3 (P40763) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in ADMIO1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R107Q (p.Arg107Gln) variant details
- p.Arg107Gln
- ExAC rs749626783
- gnomAD rs749626783
- Uncertain significance
- in ADMIO1
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.32
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.61
- EBI: uncertain significance (in ADMIO1)
- UniProt: Uncertain significance (in ADMIO1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available