I19N (p.Ile19Asn) variant of SMAD4 (SMAD family member 4)
I19N (p.Ile19Asn) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
I19N (p.Ile19Asn) variant details
- p.Ile19Asn
- Ensembl rs2144400593
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.52
- MetaSVM 0.10
- CADD 29.20
- Structural context available