I64T (p.Ile64Thr) variant of STAT3 (P40763)
I64T (p.Ile64Thr) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
I64T (p.Ile64Thr) variant details
- p.Ile64Thr
- rs2509529713
- ClinGen CA399597030
- ClinVar RCV003782966
- ClinVar RCV004790602
- Uncertain significance
- not provided; Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.43
- CADD 27.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hyper-IgE recurrent infection syndrome 1, autosoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)