L4I (p.Leu4Ile) variant of LAMC2 (Laminin subunit gamma-2)
L4I (p.Leu4Ile) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- TOPMed rs1658148481
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.06
- CADD 22.50
- PolyPhen-2 0.30
- SIFT 0.18
- Population evidence available
- Structural context available