L6M (p.Leu6Met) variant of LAMC2 (Laminin subunit gamma-2)
L6M (p.Leu6Met) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- gnomAD 1-183186368-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.11
- CADD 25.50
- PolyPhen-2 0.64
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available