R9Q (p.Arg9Gln) variant of TNFRSF13B (O14836)
R9Q (p.Arg9Gln) 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 0.13 / 1. The record also includes population frequency data and published literature.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- rs772399974
- ClinGen CA8414167
- cosmic curated COSV10723
- ClinVar RCV001302820
- Uncertain significance
- Immunodeficiency, common variable, 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.16
- CADD 2.02
- PolyPhen-2 0.01
- SIFT 0.51
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)