K4T (p.Lys4Thr) variant of IL33 (Interleukin-33)
K4T (p.Lys4Thr) in IL33 (Interleukin-33) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K4T (p.Lys4Thr) variant details
- p.Lys4Thr
- 1000Genomes rs566807686
- ExAC rs566807686
- TOPMed rs566807686
- gnomAD rs566807686
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.14
- MetaLR 0.15
- MetaSVM -0.99
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available