S5F (p.Ser5Phe) variant of SMAD4 (SMAD family member 4)
S5F (p.Ser5Phe) 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 0.77 / 1. The record also includes structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- Ensembl rs2144400216
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.94
- MetaSVM 1.09
- CADD 28.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available