S18Y (p.Ser18Tyr) variant of LMNA (Prelamin-A/C)
S18Y (p.Ser18Tyr) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S18Y (p.Ser18Tyr) variant details
- p.Ser18Tyr
- gnomAD 1-156114971-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.45
- MetaSVM -0.03
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available