R12Q (p.Arg12Gln) variant of TNFRSF13B (O14836)
R12Q (p.Arg12Gln) in TNFRSF13B (O14836) 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, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R12Q (p.Arg12Gln) variant details
- p.Arg12Gln
- rs754315707
- ClinGen CA8414163
- ClinVar RCV001885615
- ClinVar RCV004040673
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.28
- CADD 13.50
- PolyPhen-2 0.36
- SIFT 0.46
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)