E26E (p.Glu26Glu) variant of LAMC2 (Laminin subunit gamma-2)
E26E (p.Glu26Glu) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E26E (p.Glu26Glu) variant details
- p.Glu26Glu
- rs779191964
- gnomAD 1-183186430-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 22.70
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available