F51L (p.Phe51Leu) variant of LAMC2 (Laminin subunit gamma-2)
F51L (p.Phe51Leu) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- gnomAD 1-183207952-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.07
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available