R24M (p.Arg24Met) variant of LAMC2 (Laminin subunit gamma-2)
R24M (p.Arg24Met) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R24M (p.Arg24Met) variant details
- p.Arg24Met
- gnomAD 1-183186423-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.11
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available