G20E (p.Gly20Glu) variant of IL7R (P16871)
G20E (p.Gly20Glu) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 104; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G20E (p.Gly20Glu) variant details
- p.Gly20Glu
- rs1759663249
- ClinGen CA359426038
- ClinVar RCV001223735
- ClinVar RCV002562586
- Uncertain significance
- Immunodeficiency 104; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.70
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 104; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)