Q119K (p.Gln119Lys) variant of ADA (Adenosine deaminase)
Q119K (p.Gln119Lys) 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 0.69 / 1. The record also includes population frequency data and structural context.
Q119K (p.Gln119Lys) variant details
- p.Gln119Lys
- ExAC rs773612521
- gnomAD rs773612521
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.67
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.13
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available