G29C (p.Gly29Cys) variant of SMAD4 (SMAD family member 4)
G29C (p.Gly29Cys) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
G29C (p.Gly29Cys) variant details
- p.Gly29Cys
- Ensembl rs2144400809
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.63
- MetaSVM 0.33
- CADD 32.00
- Structural context available