E18K (p.Glu18Lys) variant of SOCS1 (O15524)
E18K (p.Glu18Lys) in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- cosmic curated COSV59659
- TOPMed rs1163730492
- gnomAD rs1163730492
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.08
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available