L29M (p.Leu29Met) variant of LAMA3 (Laminin subunit alpha-3)
L29M (p.Leu29Met) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L29M (p.Leu29Met) variant details
- p.Leu29Met
- gnomAD 18-23689768-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.06
- CADD 14.60
- PolyPhen-2 0.65
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available