C11S (p.Cys11Ser) variant of LAMC2 (Laminin subunit gamma-2)
C11S (p.Cys11Ser) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C11S (p.Cys11Ser) variant details
- p.Cys11Ser
- gnomAD 1-183186383-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.05
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available