C28S (p.Cys28Ser) variant of LAMC2 (Laminin subunit gamma-2)
C28S (p.Cys28Ser) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C28S (p.Cys28Ser) variant details
- p.Cys28Ser
- gnomAD 1-183207883-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.97
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available