D19E (p.Asp19Glu) variant of ADA (Adenosine deaminase)
D19E (p.Asp19Glu) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D19E (p.Asp19Glu) variant details
- p.Asp19Glu
- rs762695968
- ClinGen CA9871787
- ClinVar RCV000796546
- ExAC rs762695968
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.78
- CADD 20.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)