A8T (p.Ala8Thr) variant of IL1B (Interleukin-1 beta)
A8T (p.Ala8Thr) in IL1B (Interleukin-1 beta) 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 0.09 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs762704392
- NCI-TCGA Cosmic COSV5452
- ExAC rs762704392
- TOPMed rs762704392
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.086
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.01
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available