K54R (p.Lys54Arg) variant of ADA (Adenosine deaminase)
K54R (p.Lys54Arg) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
K54R (p.Lys54Arg) variant details
- p.Lys54Arg
- ExAC rs750682305
- TOPMed rs750682305
- gnomAD rs750682305
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.37
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.11
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available