T3I (p.Thr3Ile) variant of LMNA (Prelamin-A/C)
T3I (p.Thr3Ile) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- gnomAD 1-156114926-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.57
- MetaSVM 0.26
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available