G48R (p.Gly48Arg) variant of LAMC2 (Laminin subunit gamma-2)
G48R (p.Gly48Arg) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- ExAC rs764250644
- TOPMed rs764250644
- gnomAD rs764250644
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.52
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available