L12M (p.Leu12Met) variant of LAMA3 (Laminin subunit alpha-3)
L12M (p.Leu12Met) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- gnomAD 18-23689717-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.01
- CADD 9.62
- PolyPhen-2 0.08
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available