E42V (p.Glu42Val) variant of LAMC2 (Laminin subunit gamma-2)
E42V (p.Glu42Val) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E42V (p.Glu42Val) variant details
- p.Glu42Val
- gnomAD 1-183207926-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.28
- CADD 25.10
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available