Q48P (p.Gln48Pro) variant of NFKB2 (Q00653)
Q48P (p.Gln48Pro) 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 0.69 / 1. The record also includes population frequency data and published literature.
Q48P (p.Gln48Pro) variant details
- p.Gln48Pro
- rs755916743
- ClinGen CA5664462
- ClinVar RCV002000659
- ClinVar RCV004641852
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- 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)