R22W (p.Arg22Trp) variant of SOCS1 (O15524)
R22W (p.Arg22Trp) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R22W (p.Arg22Trp) variant details
- p.Arg22Trp
- rs2069586831
- ClinGen CA394740825
- ClinVar RCV001254900
- ClinVar RCV001526872
- Pathogenic/Likely pathogenic
- AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY; Systemic lupus er
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.07
- CADD 25.40
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY; S)
- EBI: Pathogenic (in AISIMD)
- UniProt: Pathogenic (in AISIMD)
- Population evidence available
- 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)