I130T (p.Ile130Thr) variant of STAT1 (P42224)
I130T (p.Ile130Thr) 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 0.38 / 1. The record also includes structural context.
I130T (p.Ile130Thr) variant details
- p.Ile130Thr
- rs1694239561
- ClinGen CA349925535
- cosmic curated COSV63117
- ClinVar RCV001206843
- Uncertain significance
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.10
- MetaLR 0.41
- MetaSVM -0.61
- PolyPhen-2 0.00
- SIFT 0.25
- EVE 0.07
- ClinVar: Uncertain significance (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available