L29C (p.Leu29Cys) variant of LMNA (Prelamin-A/C)
L29C (p.Leu29Cys) in LMNA (Prelamin-A/C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L29C (p.Leu29Cys) variant details
- p.Leu29Cys
- gnomAD 1-156115000-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available