N3I (p.Asn3Ile) variant of SMAD4 (SMAD family member 4)
N3I (p.Asn3Ile) 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 0.33 / 1. The record also includes structural context.
N3I (p.Asn3Ile) variant details
- p.Asn3Ile
- Ensembl rs757702252
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.70
- MetaSVM 0.07
- CADD 20.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available