V87I (p.Val87Ile) variant of CD19 (B-lymphocyte antigen CD19)
V87I (p.Val87Ile) in CD19 (B-lymphocyte antigen CD19) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
V87I (p.Val87Ile) variant details
- p.Val87Ile
- 1000Genomes rs201308929
- ExAC rs201308929
- TOPMed rs201308929
- gnomAD rs201308929
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.02
- CADD 5.83
- PolyPhen-2 0.08
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available