I53T (p.Ile53Thr) variant of IL6 (Interleukin-6)
I53T (p.Ile53Thr) in IL6 (Interleukin-6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I53T (p.Ile53Thr) variant details
- p.Ile53Thr
- rs762371056
- NCI-TCGA Cosmic COSV5173
- cosmic curated COSV51733
- ExAC rs762371056
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.03
- CADD 7.25
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available