Q91R (p.Gln91Arg) variant of STAT4 (Q14765)
Q91R (p.Gln91Arg) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q91R (p.Gln91Arg) variant details
- p.Gln91Arg
- rs773503051
- ClinGen CA2030965
- ClinVar RCV001985632
- ExAC rs773503051
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.30
- MetaLR 0.23
- MetaSVM -0.64
- CADD 26.30
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.2e-05)
- Structural context available