G187D (p.Gly187Asp) variant of SOCS1 (O15524)
G187D (p.Gly187Asp) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoinflammatory syndrome with immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G187D (p.Gly187Asp) variant details
- p.Gly187Asp
- rs2141124327
- ClinGen CA394739795
- cosmic curated COSV10524
- ClinVar RCV003388891
- Likely pathogenic
- Autoinflammatory syndrome with immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.21
- MetaLR 0.20
- MetaSVM -0.82
- CADD 23.60
- PolyPhen-2 0.19
- SIFT 0.03
- ClinVar: Likely pathogenic (Autoinflammatory syndrome with immunodeficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available