Y94C (p.Tyr94Cys) variant of STAT3 (P40763)
Y94C (p.Tyr94Cys) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Y94C (p.Tyr94Cys) variant details
- p.Tyr94Cys
- rs2082663522
- ClinGen CA399596681
- ClinVar RCV001201701
- Ensembl rs2082663522
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.68
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)