I19F (p.Ile19Phe) variant of SMAD4 (SMAD family member 4)
I19F (p.Ile19Phe) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
I19F (p.Ile19Phe) variant details
- p.Ile19Phe
- Ensembl rs1568202964
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.52
- MetaSVM 0.09
- CADD 28.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available