G50R (p.Gly50Arg) variant of LAMC2 (Laminin subunit gamma-2)
G50R (p.Gly50Arg) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- ExAC rs781646663
- gnomAD rs781646663
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.35
- CADD 25.50
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available