E42G (p.Glu42Gly) variant of LAMC2 (Laminin subunit gamma-2)
E42G (p.Glu42Gly) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E42G (p.Glu42Gly) variant details
- p.Glu42Gly
- ExAC rs765078128
- gnomAD rs765078128
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.20
- CADD 24.40
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available