P123R (p.Pro123Arg) variant of SOCS1 (O15524)
P123R (p.Pro123Arg) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoinflammatory syndrome with immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
P123R (p.Pro123Arg) variant details
- p.Pro123Arg
- rs1244284678
- ClinGen CA394740197
- cosmic curated COSV59660
- ClinVar RCV001254897
- Pathogenic
- Autoinflammatory syndrome with immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- ClinVar: Pathogenic (Autoinflammatory syndrome with immunodeficiency)
- 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)