C25S (p.Cys25Ser) variant of SMAD4 (SMAD family member 4)
C25S (p.Cys25Ser) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
C25S (p.Cys25Ser) variant details
- p.Cys25Ser
- Ensembl rs2144400721
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.48
- MetaSVM -0.16
- CADD 27.20
- Structural context available