I60T (p.Ile60Thr) variant of TYK2 (P29597)
I60T (p.Ile60Thr) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I60T (p.Ile60Thr) variant details
- p.Ile60Thr
- rs752152984
- ClinGen CA9193872
- ClinVar RCV001344387
- ExAC rs752152984
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.36
- CADD 16.60
- PolyPhen-2 0.07
- SIFT 0.05
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available