T67I (p.Thr67Ile) variant of TYK2 (P29597)
T67I (p.Thr67Ile) in TYK2 (P29597) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T67I (p.Thr67Ile) variant details
- p.Thr67Ile
- ExAC rs774905892
- TOPMed rs774905892
- gnomAD rs774905892
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.40
- CADD 25.20
- PolyPhen-2 0.71
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available