E24K (p.Glu24Lys) variant of SOCS1 (O15524)
E24K (p.Glu24Lys) in SOCS1 (O15524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoinflammatory syndrome with immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- rs2511259967
- ClinGen CA394740816
- ClinVar RCV004555969
- cosmic curated COSV59660
- Uncertain significance
- Autoinflammatory syndrome with immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.09
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Autoinflammatory syndrome with immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available