L280W (p.Leu280Trp) variant of STAT1 (P42224)
L280W (p.Leu280Trp) 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 0.64 / 1. The record also includes structural context.
L280W (p.Leu280Trp) variant details
- p.Leu280Trp
- rs1574657762
- ClinGen CA349921965
- ClinVar RCV001027625
- Ensembl rs1574657762
- Likely pathogenic
- Inherited Immunodeficiency Diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- AlphaMissense 0.98
- MetaLR 0.54
- MetaSVM 0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Inherited Immunodeficiency Diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available