E21Q (p.Glu21Gln) variant of CD19 (B-lymphocyte antigen CD19)
E21Q (p.Glu21Gln) 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 not provided; Immunodeficiency, common variable, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E21Q (p.Glu21Gln) variant details
- p.Glu21Gln
- rs771929657
- ClinGen CA395428842
- ClinVar RCV001116544
- ClinVar RCV002556465
- Uncertain significance
- not provided; Immunodeficiency, common variable, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.00
- CADD 1.62
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Immunodeficiency, common variable, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available