K111E (p.Lys111Glu) variant of ADA (Adenosine deaminase)
K111E (p.Lys111Glu) 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 0.36 / 1. The record also includes population frequency data and structural context.
K111E (p.Lys111Glu) variant details
- p.Lys111Glu
- ExAC rs543345924
- TOPMed rs543345924
- gnomAD rs543345924
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.42
- CADD 18.30
- PolyPhen-2 0.10
- SIFT 0.26
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available