T7P (p.Thr7Pro) variant of SMAD4 (SMAD family member 4)
T7P (p.Thr7Pro) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
T7P (p.Thr7Pro) variant details
- p.Thr7Pro
- Ensembl rs2144400256
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.79
- MetaSVM 0.84
- CADD 25.70
- Structural context available