R7L (p.Arg7Leu) variant of LMNA (Prelamin-A/C)
R7L (p.Arg7Leu) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- gnomAD 1-156114938-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.33
- ESM-1b 0.55
- AlphaMissense 0.61
- MetaLR 0.21
- MetaSVM -0.72
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available