T48I (p.Thr48Ile) variant of IL6 (Interleukin-6)
T48I (p.Thr48Ile) in IL6 (Interleukin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- ExAC rs768665469
- gnomAD rs768665469
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.23
- MetaLR 0.36
- MetaSVM -0.62
- CADD 19.80
- PolyPhen-2 0.08
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available