S22I (p.Ser22Ile) variant of SMAD4 (SMAD family member 4)
S22I (p.Ser22Ile) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- Ensembl rs2144400654
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.47
- MetaSVM -0.12
- CADD 31.00
- Structural context available