F51M (p.Phe51Met) variant of LAMC2 (Laminin subunit gamma-2)
F51M (p.Phe51Met) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
F51M (p.Phe51Met) variant details
- p.Phe51Met
- rs1057517353
- gnomAD 1-183207945-T-TAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 16.10
- Population evidence available
- Structural context available
- Literature evidence available