S18T (p.Ser18Thr) variant of LMNA (Prelamin-A/C)
S18T (p.Ser18Thr) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- gnomAD 1-156114970-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.77
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available