L15V (p.Leu15Val) variant of LAMC2 (Laminin subunit gamma-2)
L15V (p.Leu15Val) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- ExAC rs762557088
- TOPMed rs762557088
- gnomAD rs762557088
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.08
- CADD 14.80
- PolyPhen-2 0.43
- SIFT 0.19
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available