K286E (p.Lys286Glu) variant of STAT1 (P42224)
K286E (p.Lys286Glu) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.41 / 1. The record also includes structural context.
K286E (p.Lys286Glu) variant details
- p.Lys286Glu
- rs1693752377
- ClinGen CA349921850
- ClinVar RCV001232400
- Ensembl rs1693752377
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.89
- MetaLR 0.25
- MetaSVM -0.71
- PolyPhen-2 0.29
- SIFT 0.01
- EVE 0.47
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Likely pathogenic (in IMD31C)
- UniProt: Likely pathogenic (in IMD31C)
- Structural context available