S18C (p.Ser18Cys) variant of LMNA (Prelamin-A/C)
S18C (p.Ser18Cys) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S18C (p.Ser18Cys) variant details
- p.Ser18Cys
- gnomAD 1-156114971-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.55
- MetaSVM 0.16
- CADD 25.90
- Population evidence available
- Structural context available
- Literature evidence available