R52Q (p.Arg52Gln) variant of IL6 (Interleukin-6)
R52Q (p.Arg52Gln) in IL6 (Interleukin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- cosmic curated COSV51733
- TOPMed rs907057477
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -1.01
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available