G7V (p.Gly7Val) variant of LAMC2 (Laminin subunit gamma-2)
G7V (p.Gly7Val) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- gnomAD 1-183186372-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.09
- CADD 22.70
- PolyPhen-2 0.11
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available