T437I (p.Thr437Ile) variant of STAT1 (P42224)
T437I (p.Thr437Ile) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
T437I (p.Thr437Ile) variant details
- p.Thr437Ile
- rs1692619276
- ClinGen CA349917776
- ClinVar RCV001057504
- Ensembl rs1692619276
- Pathogenic/Likely pathogenic
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 0.95
- MetaLR 0.83
- MetaSVM 0.84
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.44
- ClinVar: Pathogenic/Likely pathogenic (Autoimmune enteropathy and endocrinopathy - susceptibility to ch)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available