T67S (p.Thr67Ser) variant of TYK2 (P29597)
T67S (p.Thr67Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
T67S (p.Thr67Ser) variant details
- p.Thr67Ser
- rs774905892
- ClinGen CA9193812
- ClinVar RCV001042380
- ExAC rs774905892
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.12
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.63
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available