E52Q (p.Glu52Gln) variant of LCK (Tyrosine-protein kinase Lck)
E52Q (p.Glu52Gln) in LCK (Tyrosine-protein kinase Lck) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency due to LCK deficiency. The record also includes experimental measurements and structural context.
E52Q (p.Glu52Gln) variant details
- p.Glu52Gln
- rs2521639041
- ClinGen CA339636118
- ClinVar RCV002297700
- Uncertain significance
- Severe combined immunodeficiency due to LCK deficiency
- Missense
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to LCK deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.311