L4F (p.Leu4Phe) variant of LAMC2 (Laminin subunit gamma-2)
L4F (p.Leu4Phe) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- gnomAD 1-183186362-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.10
- CADD 24.20
- PolyPhen-2 0.69
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available