T11K (p.Thr11Lys) variant of SMAD4 (SMAD family member 4)
T11K (p.Thr11Lys) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
T11K (p.Thr11Lys) variant details
- p.Thr11Lys
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10074
- Ensembl rs2144400374
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.94
- MetaSVM 1.08
- CADD 27.70
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available