C11R (p.Cys11Arg) variant of LAMC2 (Laminin subunit gamma-2)
C11R (p.Cys11Arg) 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.
C11R (p.Cys11Arg) variant details
- p.Cys11Arg
- gnomAD 1-183186383-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.09
- CADD 15.50
- PolyPhen-2 0.11
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available