L6R (p.Leu6Arg) variant of CD19 (B-lymphocyte antigen CD19)
L6R (p.Leu6Arg) 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. 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.
L6R (p.Leu6Arg) variant details
- p.Leu6Arg
- rs886051886
- ClinGen CA10647298
- ClinVar RCV000406915
- gnomAD rs886051886
- Uncertain significance
- Immunodeficiency, common variable, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.05
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: Uncertain significance (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