K709E (p.Lys709Glu) variant of STAT3 (P40763)
K709E (p.Lys709Glu) 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 0.51 / 1. The record also includes published literature and structural context.
K709E (p.Lys709Glu) variant details
- p.Lys709Glu
- rs1555562364
- ClinGen CA399580215
- ClinVar RCV000523482
- ClinVar RCV005222989
- Likely pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- AlphaMissense 0.77
- MetaLR 0.69
- MetaSVM 0.13
- PolyPhen-2 0.03
- SIFT 0.54
- EVE 0.11
- 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)