Y287D (p.Tyr287Asp) variant of STAT1 (P42224)
Y287D (p.Tyr287Asp) 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 0.37 / 1. The record also includes structural context.
Y287D (p.Tyr287Asp) variant details
- p.Tyr287Asp
- rs1574657735
- ClinGen CA349921817
- ClinVar RCV001027628
- Ensembl rs1574657735
- Likely pathogenic
- Inherited Immunodeficiency Diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.74
- MetaLR 0.16
- MetaSVM -0.91
- PolyPhen-2 0.01
- SIFT 0.00
- EVE 0.46
- ClinVar: Likely pathogenic (Inherited Immunodeficiency Diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available