E31D (p.Glu31Asp) variant of LMNA (Prelamin-A/C)
E31D (p.Glu31Asp) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- gnomAD 1-156115011-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.88
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available