N49K (p.Asn49Lys) variant of LAMC2 (Laminin subunit gamma-2)
N49K (p.Asn49Lys) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
N49K (p.Asn49Lys) variant details
- p.Asn49Lys
- 1000Genomes rs569291602
- ExAC rs569291602
- gnomAD rs569291602
- Missense
- Variant Prioritization Score for Impact Estimate 0.0595
- REVEL 0.06
- CADD 1.64
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available