E33A (p.Glu33Ala) variant of SMAD4 (SMAD family member 4)
E33A (p.Glu33Ala) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
E33A (p.Glu33Ala) variant details
- p.Glu33Ala
- Ensembl rs2144400896
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.61
- MetaSVM 0.33
- CADD 28.20
- Structural context available