R76S (p.Arg76Ser) variant of CD19 (B-lymphocyte antigen CD19)
R76S (p.Arg76Ser) in CD19 (B-lymphocyte antigen CD19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R76S (p.Arg76Ser) variant details
- p.Arg76Ser
- rs999692059
- ClinGen CA279269440
- ClinVar RCV001336403
- ClinVar RCV001871885
- Uncertain significance
- Immunodeficiency, common variable, 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.05
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 3; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available