E18V (p.Glu18Val) variant of SOCS1 (O15524)
E18V (p.Glu18Val) 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.
E18V (p.Glu18Val) variant details
- p.Glu18Val
- ExAC rs755719591
- TOPMed rs755719591
- gnomAD rs755719591
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.05
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available