E42E (p.Glu42Glu) variant of LAMC2 (Laminin subunit gamma-2)
E42E (p.Glu42Glu) in LAMC2 (Laminin subunit gamma-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E42E (p.Glu42Glu) variant details
- p.Glu42Glu
- rs1658946280
- gnomAD 1-183207927-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.73
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available