H410Y (p.His410Tyr) variant of STAT3 (P40763)
H410Y (p.His410Tyr) 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 0.67 / 1. The record also includes published literature and structural context.
H410Y (p.His410Tyr) variant details
- p.His410Tyr
- rs2081903545
- ClinGen CA399588590
- ClinVar RCV001343329
- Ensembl rs2081903545
- Pathogenic
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- AlphaMissense 0.94
- MetaLR 0.77
- MetaSVM 0.52
- PolyPhen-2 0.95
- SIFT 0.09
- EVE 0.31
- ClinVar: Pathogenic (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)