V389G (p.Val389Gly) variant of STAT1 (P42224)
V389G (p.Val389Gly) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
V389G (p.Val389Gly) variant details
- p.Val389Gly
- rs1692876152
- ClinGen CA349919074
- cosmic curated COSV63116
- ClinVar RCV001066865
- Likely pathogenic
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.85
- MetaLR 0.83
- MetaSVM 0.84
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.88
- ClinVar: Likely pathogenic (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available