T288I (p.Thr288Ile) variant of STAT1 (P42224)
T288I (p.Thr288Ile) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
T288I (p.Thr288Ile) variant details
- p.Thr288Ile
- rs1693751220
- ClinGen CA349921778
- ClinVar RCV001052585
- ClinVar RCV002264164
- Pathogenic
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.11
- MetaLR 0.14
- MetaSVM -0.95
- PolyPhen-2 0.01
- SIFT 0.85
- EVE 0.16
- ClinVar: Pathogenic (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Pathogenic (in IMD31C)
- UniProt: Pathogenic (in IMD31C)
- Structural context available