W52C (p.Trp52Cys) variant of CD19 (B-lymphocyte antigen CD19)
W52C (p.Trp52Cys) in CD19 (B-lymphocyte antigen CD19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency, common variable, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
W52C (p.Trp52Cys) variant details
- p.Trp52Cys
- rs886037920
- ClinGen CA10586369
- ClinVar RCV000240828
- Ensembl rs886037920
- Pathogenic
- Immunodeficiency, common variable, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.98
- MetaLR 0.36
- MetaSVM -0.32
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Immunodeficiency, common variable, 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in… (PMID 21330302)