A9D (p.Ala9Asp) variant of LMNA (Prelamin-A/C)
A9D (p.Ala9Asp) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- gnomAD 1-156114944-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.56
- MetaLR 0.33
- MetaSVM -0.39
- CADD 22.90
- Population evidence available
- Structural context available
- Literature evidence available