G48D (p.Gly48Asp) variant of LAMC2 (Laminin subunit gamma-2)
G48D (p.Gly48Asp) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- gnomAD rs1658947445
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.45
- CADD 24.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available