E52* (p.Glu52Ter) variant of LCK (Tyrosine-protein kinase Lck)
E52* (p.Glu52Ter) in LCK (Tyrosine-protein kinase Lck) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- gnomAD 1-32274785-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.311
- Literature evidence available