L64F (p.Leu64Phe) variant of CD19 (B-lymphocyte antigen CD19)
L64F (p.Leu64Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L64F (p.Leu64Phe) variant details
- p.Leu64Phe
- rs2506454364
- ClinGen CA395429936
- ClinVar RCV002815503
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.09
- CADD 18.60
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available