G7A (p.Gly7Ala) variant of LAMC2 (Laminin subunit gamma-2)
G7A (p.Gly7Ala) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G7A (p.Gly7Ala) variant details
- p.Gly7Ala
- gnomAD 1-183186369-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 21.30
- Population evidence available
- Structural context available
- Literature evidence available