S12C (p.Ser12Cys) variant of SMAD4 (SMAD family member 4)
S12C (p.Ser12Cys) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- Ensembl rs2144400400
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.92
- MetaSVM 1.04
- CADD 26.70
- Structural context available