T7S (p.Thr7Ser) variant of SMAD4 (SMAD family member 4)
T7S (p.Thr7Ser) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
T7S (p.Thr7Ser) variant details
- p.Thr7Ser
- Ensembl rs2144400256
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.69
- MetaSVM 0.19
- CADD 20.90
- Structural context available