S12T (p.Ser12Thr) variant of SMAD4 (SMAD family member 4)
S12T (p.Ser12Thr) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
S12T (p.Ser12Thr) variant details
- p.Ser12Thr
- Ensembl rs2144400408
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.90
- MetaSVM 0.86
- CADD 24.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available