N49H (p.Asn49His) variant of LAMC2 (Laminin subunit gamma-2)
N49H (p.Asn49His) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N49H (p.Asn49His) variant details
- p.Asn49His
- ExAC rs765639954
- TOPMed rs765639954
- gnomAD rs765639954
- Missense
- Variant Prioritization Score for Impact Estimate 0.0885
- REVEL 0.09
- CADD 1.64
- PolyPhen-2 0.01
- SIFT 0.76
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available