E18G (p.Glu18Gly) variant of SOCS1 (O15524)
E18G (p.Glu18Gly) in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- ExAC rs755719591
- TOPMed rs755719591
- gnomAD rs755719591
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.05
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Structural context available