Y672C (p.Tyr672Cys) variant of STAT3 (P40763)
Y672C (p.Tyr672Cys) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y672C (p.Tyr672Cys) variant details
- p.Tyr672Cys
- rs1407556958
- ClinGen CA399581684
- cosmic curated COSV52889
- ClinVar RCV001050700
- Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.92
- CADD 29.50
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (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 9e-07)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)