C25G (p.Cys25Gly) variant of SMAD4 (SMAD family member 4)
C25G (p.Cys25Gly) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
C25G (p.Cys25Gly) variant details
- p.Cys25Gly
- Ensembl rs2144400721
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.30
- MetaSVM -0.65
- CADD 28.70
- Structural context available