W5* (p.Trp5Ter) variant of LAMC2 (Laminin subunit gamma-2)
W5* (p.Trp5Ter) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
W5* (p.Trp5Ter) variant details
- p.Trp5Ter
- TOPMed rs1426564374
- gnomAD rs1426564374
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 40.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available