S5P (p.Ser5Pro) variant of SMAD4 (SMAD family member 4)
S5P (p.Ser5Pro) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- Ensembl rs2144400212
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.36
- MetaLR 0.94
- MetaSVM 1.09
- CADD 27.50
- Structural context available