E29Q (p.Glu29Gln) variant of CD19 (B-lymphocyte antigen CD19)
E29Q (p.Glu29Gln) 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; Inborn genetic diseases. 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.
E29Q (p.Glu29Gln) variant details
- p.Glu29Gln
- ExAC rs761320831
- TOPMed rs761320831
- gnomAD rs761320831
- Uncertain significance
- Immunodeficiency, common variable, 3; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.09
- CADD 21.40
- PolyPhen-2 0.69
- SIFT 0.09
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 3; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available