D34G (p.Asp34Gly) variant of LMNA (Prelamin-A/C)
D34G (p.Asp34Gly) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D34G (p.Asp34Gly) variant details
- p.Asp34Gly
- gnomAD 1-156115019-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.68
- MetaSVM 0.41
- CADD 28.60
- Population evidence available
- Structural context available
- Literature evidence available