S32I (p.Ser32Ile) variant of SMAD4 (SMAD family member 4)
S32I (p.Ser32Ile) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
S32I (p.Ser32Ile) variant details
- p.Ser32Ile
- Ensembl rs2144400871
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.41
- MetaSVM -0.21
- CADD 28.60
- Structural context available