E31V (p.Glu31Val) variant of SMAD4 (SMAD family member 4)
E31V (p.Glu31Val) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
E31V (p.Glu31Val) variant details
- p.Glu31Val
- Ensembl rs2144400856
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.53
- MetaSVM 0.12
- CADD 29.70
- Structural context available