L12L (p.Leu12Leu) variant of LAMA3 (Laminin subunit alpha-3)
L12L (p.Leu12Leu) in LAMA3 (Laminin subunit alpha-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs2060541809
- gnomAD 18-23689717-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 8.04
- Population evidence available
- Structural context available
- Literature evidence available