S12I (p.Ser12Ile) variant of LMNA (Prelamin-A/C)
S12I (p.Ser12Ile) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S12I (p.Ser12Ile) variant details
- p.Ser12Ile
- gnomAD 1-156114953-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.46
- MetaSVM -0.02
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available