Q28E (p.Gln28Glu) variant of SMAD4 (SMAD family member 4)
Q28E (p.Gln28Glu) 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 0.52 / 1. The record also includes structural context.
Q28E (p.Gln28Glu) variant details
- p.Gln28Glu
- Ensembl rs2144400785
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.53
- MetaSVM 0.05
- CADD 27.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available