Q120E (p.Gln120Glu) variant of STAT1 (P42224)
Q120E (p.Gln120Glu) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
Q120E (p.Gln120Glu) variant details
- p.Gln120Glu
- rs1694803399
- ClinGen CA349927219
- ClinVar RCV001051390
- Ensembl rs1694803399
- Uncertain significance
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.83
- EVE 0.10
- ClinVar: Uncertain significance (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available