P7L (p.Pro7Leu) variant of LAMA3 (Laminin subunit alpha-3)
P7L (p.Pro7Leu) in LAMA3 (Laminin subunit alpha-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs1555670401
- gnomAD 18-23689699-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available