G92W (p.Gly92Trp) variant of CD19 (B-lymphocyte antigen CD19)
G92W (p.Gly92Trp) in CD19 (B-lymphocyte antigen CD19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inherited Immunodeficiency Diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G92W (p.Gly92Trp) variant details
- p.Gly92Trp
- rs758555433
- ClinGen CA7988315
- ClinVar RCV001027553
- ExAC rs758555433
- Likely pathogenic
- Inherited Immunodeficiency Diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.40
- MetaLR 0.07
- MetaSVM -1.16
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Inherited Immunodeficiency Diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available