P2L (p.Pro2Leu) variant of LAMC2 (Laminin subunit gamma-2)
P2L (p.Pro2Leu) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- ExAC rs780399805
- TOPMed rs780399805
- gnomAD rs780399805
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.04
- CADD 23.80
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available