K63E (p.Lys63Glu) variant of TYK2 (P29597)
K63E (p.Lys63Glu) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K63E (p.Lys63Glu) variant details
- p.Lys63Glu
- rs1249291887
- ClinGen CA404022615
- ClinVar RCV001313453
- ClinVar RCV006391890
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.10
- CADD 15.70
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)