N49D (p.Asn49Asp) variant of LAMC2 (Laminin subunit gamma-2)
N49D (p.Asn49Asp) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
N49D (p.Asn49Asp) variant details
- p.Asn49Asp
- ExAC rs765639954
- TOPMed rs765639954
- gnomAD rs765639954
- Missense
- Variant Prioritization Score for Impact Estimate 0.0974
- REVEL 0.08
- CADD 8.44
- PolyPhen-2 0.16
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available