Y289H (p.Tyr289His) variant of STAT1 (P42224)
Y289H (p.Tyr289His) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
Y289H (p.Tyr289His) variant details
- p.Tyr289His
- rs2125062317
- ClinGen CA349921769
- ClinVar RCV002651586
- Ensembl rs2125062317
- Likely pathogenic
- Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 0.75
- MetaLR 0.45
- MetaSVM 0.00
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available