A181E (p.Ala181Glu) variant of TNFRSF13B (O14836)
A181E (p.Ala181Glu) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Common variable immunodeficiency; Immunodeficiency, common variable, 2; Immunogl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A181E (p.Ala181Glu) variant details
- p.Ala181Glu
- rs72553883
- ClinGen CA117389
- cosmic curated COSV10802
- ClinVar RCV000005625
- Pathogenic/Likely pathogenic
- Common variable immunodeficiency; Immunodeficiency, common variable, 2; Immunogl
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.61
- MetaLR 0.60
- MetaSVM 0.31
- CADD 8.97
- PolyPhen-2 0.40
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Common variable immunodeficiency; Immunodeficiency, common varia)
- EBI: Pathogenic (in CVID2)
- UniProt: Pathogenic (in CVID2)
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)