A18E (p.Ala18Glu) variant of LAMC2 (Laminin subunit gamma-2)
A18E (p.Ala18Glu) 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, published literature, and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- gnomAD 1-183186405-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.15
- CADD 16.40
- PolyPhen-2 0.35
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available