C8Y (p.Cys8Tyr) variant of LAMC2 (Laminin subunit gamma-2)
C8Y (p.Cys8Tyr) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
C8Y (p.Cys8Tyr) variant details
- p.Cys8Tyr
- gnomAD 1-183186375-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.36
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available