R14G (p.Arg14Gly) variant of TNFRSF13B (O14836)
R14G (p.Arg14Gly) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and published literature.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- rs370503383
- ClinGen CA8414160
- ClinVar RCV003088360
- ClinVar RCV004963431
- Uncertain significance
- Immunodeficiency, common variable, 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.18
- CADD 9.90
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)