T11S (p.Thr11Ser) variant of SMAD4 (SMAD family member 4)
T11S (p.Thr11Ser) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
T11S (p.Thr11Ser) variant details
- p.Thr11Ser
- rs587780791
- ClinGen CA402457288
- ClinVar RCV001192752
- Ensembl rs587780791
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.49
- ESM-1b 0.29
- AlphaMissense 0.13
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.80
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available