F51I (p.Phe51Ile) variant of LAMC2 (Laminin subunit gamma-2)
F51I (p.Phe51Ile) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
F51I (p.Phe51Ile) variant details
- p.Phe51Ile
- gnomAD 1-183207952-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.19
- CADD 17.30
- PolyPhen-2 0.17
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available