S5T (p.Ser5Thr) variant of SMAD4 (SMAD family member 4)
S5T (p.Ser5Thr) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- Ensembl rs2144400212
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.82
- MetaSVM 0.77
- CADD 23.70
- Structural context available