V27S (p.Val27Ser) variant of LAMC2 (Laminin subunit gamma-2)
V27S (p.Val27Ser) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V27S (p.Val27Ser) variant details
- p.Val27Ser
- gnomAD 1-183186428-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 25.80
- Population evidence available
- Structural context available
- Literature evidence available