Q28H (p.Gln28His) variant of SMAD4 (SMAD family member 4)
Q28H (p.Gln28His) 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 0.57 / 1. The record also includes structural context.
Q28H (p.Gln28His) variant details
- p.Gln28His
- ExAC rs778465458
- TOPMed rs778465458
- gnomAD rs778465458
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.50
- MetaSVM -0.02
- CADD 23.70
- EBI: Benign
- UniProt: Benign
- Structural context available