L15H (p.Leu15His) variant of LAMC2 (Laminin subunit gamma-2)
L15H (p.Leu15His) 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.
L15H (p.Leu15His) variant details
- p.Leu15His
- gnomAD 1-183186396-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.21
- CADD 24.40
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available