C28F (p.Cys28Phe) variant of LAMC2 (Laminin subunit gamma-2)
C28F (p.Cys28Phe) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
C28F (p.Cys28Phe) variant details
- p.Cys28Phe
- gnomAD 1-183207884-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.96
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available