S12R (p.Ser12Arg) variant of SMAD4 (SMAD family member 4)
S12R (p.Ser12Arg) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- Ensembl rs2144400421
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.65
- CADD 21.10
- Structural context available