D44N (p.Asp44Asn) variant of CD19 (B-lymphocyte antigen CD19)
D44N (p.Asp44Asn) in CD19 (B-lymphocyte antigen CD19) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D44N (p.Asp44Asn) variant details
- p.Asp44Asn
- ExAC rs761039208
- TOPMed rs761039208
- gnomAD rs761039208
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0821
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -0.98
- CADD 6.65
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available