L11F (p.Leu11Phe) variant of CD19 (B-lymphocyte antigen CD19)
L11F (p.Leu11Phe) 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 0.28 / 1. The record also includes population frequency data and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- rs749441583
- ClinGen CA7988256
- cosmic curated COSV10590
- ClinVar RCV002012807
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.20
- MetaLR 0.20
- MetaSVM -0.67
- CADD 21.30
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available