G48V (p.Gly48Val) variant of LAMC2 (Laminin subunit gamma-2)
G48V (p.Gly48Val) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G48V (p.Gly48Val) variant details
- p.Gly48Val
- gnomAD 1-183207944-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.45
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available