E594K (p.Glu594Lys) variant of STAT3 (P40763)
E594K (p.Glu594Lys) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
E594K (p.Glu594Lys) variant details
- p.Glu594Lys
- rs193922720
- ClinGen CA260543
- cosmic curated COSV52894
- ClinVar RCV000030469
- Likely pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.23
- PolyPhen-2 0.06
- SIFT 0.01
- EVE 0.66
- ClinVar: Likely pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)