C8F (p.Cys8Phe) variant of LAMC2 (Laminin subunit gamma-2)
C8F (p.Cys8Phe) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C8F (p.Cys8Phe) variant details
- p.Cys8Phe
- gnomAD 1-183186375-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.10
- CADD 23.00
- PolyPhen-2 0.36
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available