S5Y (p.Ser5Tyr) variant of LMNA (Prelamin-A/C)
S5Y (p.Ser5Tyr) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S5Y (p.Ser5Tyr) variant details
- p.Ser5Tyr
- gnomAD 1-156114932-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.40
- MetaSVM -0.13
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available