V4I (p.Val4Ile) variant of IL6R (P08887)
V4I (p.Val4Ile) in IL6R (P08887) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V4I (p.Val4Ile) variant details
- p.Val4Ile
- 1000Genomes rs867881689
- TOPMed rs867881689
- gnomAD rs867881689
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.02
- CADD 16.40
- PolyPhen-2 0.10
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available