E2D (p.Glu2Asp) variant of LMNA (Prelamin-A/C)
E2D (p.Glu2Asp) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 1-156114924-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.21
- MetaSVM -0.81
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available