D14E (p.Asp14Glu) variant of SMAD4 (SMAD family member 4)
D14E (p.Asp14Glu) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
D14E (p.Asp14Glu) variant details
- p.Asp14Glu
- Ensembl rs2144400462
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- Structural context available