E52D (p.Glu52Asp) variant of LCK (Tyrosine-protein kinase Lck)
E52D (p.Glu52Asp) in LCK (Tyrosine-protein kinase Lck) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- rs373458731
- ESP rs373458731
- ExAC rs373458731
- TOPMed rs373458731
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.03
- CADD 8.86
- PolyPhen-2 0.00
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.311