I6F (p.Ile6Phe) variant of SMAD4 (SMAD family member 4)
I6F (p.Ile6Phe) 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 0.52 / 1. The record also includes structural context.
I6F (p.Ile6Phe) variant details
- p.Ile6Phe
- gnomAD rs1376500870
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.76
- MetaSVM 0.67
- CADD 24.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available