C9S (p.Cys9Ser) variant of LAMC2 (Laminin subunit gamma-2)
C9S (p.Cys9Ser) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C9S (p.Cys9Ser) variant details
- p.Cys9Ser
- gnomAD 1-183186377-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.09
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available