L21M (p.Leu21Met) variant of LAMA3 (Laminin subunit alpha-3)
L21M (p.Leu21Met) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- gnomAD 18-23689744-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.05
- CADD 14.00
- PolyPhen-2 0.24
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available