F12L (p.Phe12Leu) variant of LAMC2 (Laminin subunit gamma-2)
F12L (p.Phe12Leu) in LAMC2 (Laminin subunit gamma-2) 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.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- gnomAD 1-183186388-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.04
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available