E150G (p.Glu150Gly) variant of TYK2 (P29597)
E150G (p.Glu150Gly) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E150G (p.Glu150Gly) variant details
- p.Glu150Gly
- rs200718118
- ClinGen CA9193741
- ClinVar RCV000820314
- ClinVar RCV003362977
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.48
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00017)
- 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)