G5V (p.Gly5Val) variant of IL6R (P08887)
G5V (p.Gly5Val) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- TOPMed rs1687659801
- gnomAD rs1687659801
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.14
- CADD 13.80
- PolyPhen-2 0.04
- SIFT 0.37
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available