D2Y (p.Asp2Tyr) variant of SMAD4 (SMAD family member 4)
D2Y (p.Asp2Tyr) 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 0.47 / 1. The record also includes structural context.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- Ensembl rs1555684979
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.56
- MetaLR 0.81
- MetaSVM 0.82
- CADD 25.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available