V34M (p.Val34Met) variant of IL6R (P08887)
V34M (p.Val34Met) 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 0.31 / 1. The record also includes population frequency data and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- rs762153528
- ClinGen CA1128917
- ClinVar RCV002575827
- ExAC rs762153528
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.07
- CADD 12.20
- PolyPhen-2 0.27
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0038)
- Structural context available