Q58R (p.Gln58Arg) variant of STAT4 (Q14765)
Q58R (p.Gln58Arg) 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 0.29 / 1. The record also includes population frequency data and structural context.
Q58R (p.Gln58Arg) variant details
- p.Gln58Arg
- rs990725052
- ClinGen CA62986760
- ClinVar RCV001983436
- TOPMed rs990725052
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.00
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available