V4F (p.Val4Phe) variant of IL6R (P08887)
V4F (p.Val4Phe) in IL6R (P08887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V4F (p.Val4Phe) variant details
- p.Val4Phe
- rs867881689
- ClinGen CA30783874
- ClinVar RCV001938262
- 1000Genomes rs867881689
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.06
- CADD 23.40
- PolyPhen-2 0.51
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available