T9R (p.Thr9Arg) variant of SMAD4 (SMAD family member 4)
T9R (p.Thr9Arg) 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 0.64 / 1. The record also includes structural context.
T9R (p.Thr9Arg) variant details
- p.Thr9Arg
- Ensembl rs1555684986
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.82
- MetaSVM 0.68
- CADD 24.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available