S7R (p.Ser7Arg) variant of IL6 (Interleukin-6)
S7R (p.Ser7Arg) in IL6 (Interleukin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- 1000Genomes rs199941251
- ExAC rs199941251
- TOPMed rs199941251
- gnomAD rs199941251
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.34
- MetaLR 0.46
- MetaSVM -0.52
- CADD 23.20
- PolyPhen-2 0.51
- SIFT 0.46
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available