H26D (p.His26Asp) variant of SMAD4 (SMAD family member 4)
H26D (p.His26Asp) 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 0.63 / 1. The record also includes structural context.
H26D (p.His26Asp) variant details
- p.His26Asp
- Ensembl rs2144400736
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.46
- MetaSVM -0.40
- CADD 28.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available