K64E (p.Lys64Glu) variant of ADA (Adenosine deaminase)
K64E (p.Lys64Glu) 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, published literature, and structural context.
K64E (p.Lys64Glu) variant details
- p.Lys64Glu
- rs2516180920
- ClinGen CA409121769
- ClinVar RCV003045869
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.75
- CADD 23.20
- PolyPhen-2 0.36
- SIFT 0.07
- 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 9e-07)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)