T720I (p.Thr720Ile) variant of STAT1 (P42224)
T720I (p.Thr720Ile) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inherited Immunodeficiency Diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
T720I (p.Thr720Ile) variant details
- p.Thr720Ile
- rs1574636674
- ClinGen CA349911737
- ClinVar RCV001027624
- Ensembl rs1574636674
- Likely pathogenic
- Inherited Immunodeficiency Diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 0.26
- MetaLR 0.89
- MetaSVM 0.92
- PolyPhen-2 0.77
- SIFT 0.07
- MutPred 0.20
- ClinVar: Likely pathogenic (Inherited Immunodeficiency Diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available