S18F (p.Ser18Phe) variant of LMNA (Prelamin-A/C)
S18F (p.Ser18Phe) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- gnomAD 1-156114971-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.52
- MetaSVM 0.11
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available