H437Q (p.His437Gln) variant of STAT3 (P40763)
H437Q (p.His437Gln) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.60 / 1. The record also includes published literature and structural context.
H437Q (p.His437Gln) variant details
- p.His437Gln
- rs1598399795
- ClinGen CA399587812
- ClinVar RCV000822142
- Ensembl rs1598399795
- Pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM -0.07
- PolyPhen-2 0.35
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic (in HIES1)
- UniProt: Pathogenic (in HIES1)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)