T48S (p.Thr48Ser) variant of IL6 (Interleukin-6)
T48S (p.Thr48Ser) in IL6 (Interleukin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T48S (p.Thr48Ser) variant details
- p.Thr48Ser
- gnomAD 7-22727567-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.11
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available