C11F (p.Cys11Phe) variant of LAMC2 (Laminin subunit gamma-2)
C11F (p.Cys11Phe) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C11F (p.Cys11Phe) variant details
- p.Cys11Phe
- gnomAD 1-183186384-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.08
- CADD 18.10
- PolyPhen-2 0.02
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available