L15I (p.Leu15Ile) variant of LAMC2 (Laminin subunit gamma-2)
L15I (p.Leu15Ile) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L15I (p.Leu15Ile) variant details
- p.Leu15Ile
- ExAC rs762557088
- TOPMed rs762557088
- gnomAD rs762557088
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.10
- CADD 17.70
- PolyPhen-2 0.51
- SIFT 0.33
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available