E169K (p.Glu169Lys) variant of TYK2 (P29597)
E169K (p.Glu169Lys) 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 0.34 / 1. The record also includes population frequency data and structural context.
E169K (p.Glu169Lys) variant details
- p.Glu169Lys
- rs778545468
- ClinGen CA9193709
- ClinVar RCV001127807
- ExAC rs778545468
- Uncertain significance
- Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.07
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Uncertain significance (Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available