T7K (p.Thr7Lys) variant of SMAD4 (SMAD family member 4)
T7K (p.Thr7Lys) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
T7K (p.Thr7Lys) variant details
- p.Thr7Lys
- 1000Genomes rs372316981
- ESP rs372316981
- ExAC rs372316981
- TOPMed rs372316981
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.78
- MetaSVM 0.74
- CADD 24.50
- EBI: Benign
- UniProt: Benign
- Structural context available