A18R (p.Ala18Arg) variant of LAMC2 (Laminin subunit gamma-2)
A18R (p.Ala18Arg) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A18R (p.Ala18Arg) variant details
- p.Ala18Arg
- gnomAD 1-183186400-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 24.40
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available