D44Y (p.Asp44Tyr) variant of CD19 (B-lymphocyte antigen CD19)
D44Y (p.Asp44Tyr) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D44Y (p.Asp44Tyr) variant details
- p.Asp44Tyr
- rs761039208
- ClinGen CA7988292
- ClinVar RCV003210170
- ExAC rs761039208
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.09
- MetaLR 0.03
- MetaSVM -1.01
- CADD 16.30
- PolyPhen-2 0.61
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)