Q136K (p.Gln136Lys) variant of TYK2 (P29597)
Q136K (p.Gln136Lys) 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 0.19 / 1. The record also includes population frequency data and structural context.
Q136K (p.Gln136Lys) variant details
- p.Gln136Lys
- rs766052825
- ClinGen CA9193750
- ClinVar RCV001864505
- ExAC rs766052825
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.12
- CADD 4.88
- PolyPhen-2 0.01
- SIFT 1.00
- 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