L16M (p.Leu16Met) variant of LAMA3 (Laminin subunit alpha-3)
L16M (p.Leu16Met) 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.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- gnomAD 18-23689729-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.06
- CADD 14.10
- PolyPhen-2 0.37
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available