E27* (p.Glu27Ter) variant of MERTK (Tyrosine-protein kinase Mer)
E27* (p.Glu27Ter) in MERTK (Tyrosine-protein kinase Mer) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- TOPMed rs1223798126
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available