S18C (p.Ser18Cys) variant of SMAD4 (SMAD family member 4)
S18C (p.Ser18Cys) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
S18C (p.Ser18Cys) variant details
- p.Ser18Cys
- Ensembl rs2144400562
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.08
- CADD 32.00
- Structural context available