Y154H (p.Tyr154His) variant of SOCS1 (O15524)
Y154H (p.Tyr154His) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY; Systemic lupus er. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
Y154H (p.Tyr154His) variant details
- p.Tyr154His
- rs2069578995
- ClinGen CA394739994
- ClinVar RCV001254901
- ClinVar RCV001526873
- Pathogenic/Likely pathogenic
- AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY; Systemic lupus er
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic/Likely pathogenic (AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY; S)
- EBI: Pathogenic (in AISIMD)
- UniProt: Pathogenic (in AISIMD)
- Structural context available
- Cited in: Early-onset autoimmunity associated with SOCS1 haploinsufficiency. (PMID 33087723)
- Cited in: Whole-genome sequencing of a sporadic primary immunodeficiency cohort. (PMID 32499645)