D14Y (p.Asp14Tyr) variant of SMAD4 (SMAD family member 4)
D14Y (p.Asp14Tyr) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
D14Y (p.Asp14Tyr) variant details
- p.Asp14Tyr
- Ensembl rs2144400451
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- CADD 34.00
- Structural context available