A15P (p.Ala15Pro) variant of SMAD4 (SMAD family member 4)
A15P (p.Ala15Pro) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- TOPMed rs1909566748
- gnomAD rs1909566748
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.11
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available