R5L (p.Arg5Leu) variant of CD19 (B-lymphocyte antigen CD19)
R5L (p.Arg5Leu) in CD19 (B-lymphocyte antigen CD19) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- ExAC rs781764596
- gnomAD rs781764596
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.97
- CADD 1.64
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available