S22C (p.Ser22Cys) variant of SMAD4 (SMAD family member 4)
S22C (p.Ser22Cys) 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.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- Ensembl rs2144400650
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.38
- MetaSVM -0.26
- CADD 28.40
- Structural context available