C9F (p.Cys9Phe) variant of LAMC2 (Laminin subunit gamma-2)
C9F (p.Cys9Phe) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
C9F (p.Cys9Phe) variant details
- p.Cys9Phe
- gnomAD 1-183186378-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available