L23M (p.Leu23Met) variant of LAMA3 (Laminin subunit alpha-3)
L23M (p.Leu23Met) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L23M (p.Leu23Met) variant details
- p.Leu23Met
- gnomAD 18-23689750-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.07
- CADD 15.20
- PolyPhen-2 0.67
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available