I19S (p.Ile19Ser) variant of SMAD4 (SMAD family member 4)
I19S (p.Ile19Ser) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
I19S (p.Ile19Ser) variant details
- p.Ile19Ser
- Ensembl rs2144400593
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.52
- MetaSVM 0.09
- CADD 29.30
- Structural context available