R28L (p.Arg28Leu) variant of LMNA (Prelamin-A/C)
R28L (p.Arg28Leu) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- gnomAD 1-156115001-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.75
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available