E33D (p.Glu33Asp) variant of SMAD4 (SMAD family member 4)
E33D (p.Glu33Asp) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- Ensembl rs2144400902
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.40
- MetaSVM -0.34
- CADD 23.00
- Structural context available