G8R (p.Gly8Arg) variant of NFKB2 (Q00653)
G8R (p.Gly8Arg) in NFKB2 (Q00653) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency, common variable, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- rs922475027
- ClinGen CA377895726
- ClinVar RCV002027539
- ClinVar RCV005445573
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)