F8L (p.Phe8Leu) variant of CD19 (B-lymphocyte antigen CD19)
F8L (p.Phe8Leu) 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 0.13 / 1. The record also includes population frequency data and structural context.
F8L (p.Phe8Leu) variant details
- p.Phe8Leu
- rs1567503993
- ClinGen CA395428722
- ClinVar RCV003144714
- Uncertain significance
- Immunodeficiency, common variable, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.02
- CADD 6.89
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available