D2V (p.Asp2Val) variant of SMAD4 (SMAD family member 4)
D2V (p.Asp2Val) 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 0.43 / 1. The record also includes structural context.
D2V (p.Asp2Val) variant details
- p.Asp2Val
- Ensembl rs2144400144
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.60
- MetaLR 0.74
- MetaSVM 0.64
- CADD 23.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available