S13* (p.Ser13Ter) variant of LAMC2 (Laminin subunit gamma-2)
S13* (p.Ser13Ter) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S13* (p.Ser13Ter) variant details
- p.Ser13Ter
- gnomAD 1-183186390-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available