E26* (p.Glu26Ter) variant of LAMC2 (Laminin subunit gamma-2)
E26* (p.Glu26Ter) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data and structural context.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- TOPMed rs1192849884
- gnomAD rs1192849884
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.955
- CADD 40.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available