T9K (p.Thr9Lys) variant of SMAD4 (SMAD family member 4)
T9K (p.Thr9Lys) 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 0.61 / 1. The record also includes structural context.
T9K (p.Thr9Lys) variant details
- p.Thr9Lys
- Ensembl rs1555684986
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.79
- MetaSVM 0.62
- CADD 24.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available