H26L (p.His26Leu) variant of SMAD4 (SMAD family member 4)
H26L (p.His26Leu) 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 0.64 / 1. The record also includes structural context.
H26L (p.His26Leu) variant details
- p.His26Leu
- Ensembl rs2144400741
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.36
- MetaSVM -0.40
- CADD 28.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available