D14V (p.Asp14Val) variant of SMAD4 (SMAD family member 4)
D14V (p.Asp14Val) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
D14V (p.Asp14Val) variant details
- p.Asp14Val
- Ensembl rs2144400459
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- CADD 29.80
- Structural context available