L24M (p.Leu24Met) variant of LAMA3 (Laminin subunit alpha-3)
L24M (p.Leu24Met) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L24M (p.Leu24Met) variant details
- p.Leu24Met
- gnomAD 18-23689753-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.08
- CADD 17.60
- PolyPhen-2 0.73
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available