D2E (p.Asp2Glu) variant of SMAD4 (SMAD family member 4)
D2E (p.Asp2Glu) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- Ensembl rs2144400152
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.14
- EBI: Benign
- UniProt: Benign
- Structural context available