C104R (p.Cys104Arg) variant of TNFRSF13B (O14836)
C104R (p.Cys104Arg) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting classifications of pathogenicity; ri in the context of TNFRSF13B-related disorder; Immune deficiency, familial variable; Common variabl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C104R (p.Cys104Arg) variant details
- p.Cys104Arg
- rs34557412
- ClinGen CA117387
- cosmic curated COSV55430
- ClinVar RCV000005623
- Conflicting classifications of pathogenicity; ri
- TNFRSF13B-related disorder; Immune deficiency, familial variable; Common variabl
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.92
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity; ri (TNFRSF13B-related disorder; Immune deficiency, familial variable)
- EBI: Pathogenic (in CVID2 and IGAD2)
- UniProt: Pathogenic (in CVID2 and IGAD2)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: TACI is mutant in common variable immunodeficiency and IgA deficiency. (PMID 16007086)
- Cited in: Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. (PMID 16007087)