E31D (p.Glu31Asp) variant of SMAD4 (SMAD family member 4)
E31D (p.Glu31Asp) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- Ensembl rs2144400863
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.36
- ESM-1b 0.63
- AlphaMissense 0.55
- MetaLR 0.36
- MetaSVM -0.49
- CADD 21.90
- Structural context available