D65E (p.Asp65Glu) variant of STAT3 (P40763)
D65E (p.Asp65Glu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.34 / 1. The record also includes published literature and structural context.
D65E (p.Asp65Glu) variant details
- p.Asp65Glu
- rs2144992389
- ClinGen CA399597018
- ClinVar RCV001365625
- Ensembl rs2144992389
- Uncertain significance
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.97
- MetaLR 0.21
- MetaSVM -0.90
- PolyPhen-2 0.99
- SIFT 0.08
- EVE 0.15
- ClinVar: Uncertain significance (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)