L78P (p.Leu78Pro) variant of CD19 (B-lymphocyte antigen CD19)
L78P (p.Leu78Pro) 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 0.35 / 1. The record also includes population frequency data and structural context.
L78P (p.Leu78Pro) variant details
- p.Leu78Pro
- rs1366984000
- ClinGen CA395430066
- ClinVar RCV001320671
- TOPMed rs1366984000
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.19
- MetaLR 0.12
- MetaSVM -0.98
- CADD 22.20
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available