L12R (p.Leu12Arg) variant of LAMA3 (Laminin subunit alpha-3)
L12R (p.Leu12Arg) in LAMA3 (Laminin subunit alpha-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- gnomAD 18-23689717-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 13.00
- Population evidence available
- Structural context available
- Literature evidence available