E26D (p.Glu26Asp) variant of LAMC2 (Laminin subunit gamma-2)
E26D (p.Glu26Asp) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E26D (p.Glu26Asp) variant details
- p.Glu26Asp
- gnomAD 1-183186430-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.06
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available