R12W (p.Arg12Trp) variant of TNFRSF13B (O14836)
R12W (p.Arg12Trp) 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; Immunoglobulin A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R12W (p.Arg12Trp) variant details
- p.Arg12Trp
- rs779924436
- ClinGen CA8414164
- ClinVar RCV001871204
- ClinVar RCV002077340
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency, common variable, 2; Immunoglobulin A
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.28
- CADD 11.70
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency, common variable, 2; I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)