T11I (p.Thr11Ile) variant of SMAD4 (SMAD family member 4)
T11I (p.Thr11Ile) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
T11I (p.Thr11Ile) variant details
- p.Thr11Ile
- Ensembl rs2144400374
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.09
- CADD 26.90
- Structural context available