D34Y (p.Asp34Tyr) variant of LMNA (Prelamin-A/C)
D34Y (p.Asp34Tyr) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
D34Y (p.Asp34Tyr) variant details
- p.Asp34Tyr
- gnomAD 1-156115018-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.79
- MetaSVM 0.76
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available