Q28L (p.Gln28Leu) variant of SMAD4 (SMAD family member 4)
Q28L (p.Gln28Leu) 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 0.60 / 1. The record also includes structural context.
Q28L (p.Gln28Leu) variant details
- p.Gln28Leu
- Ensembl rs1599181096
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.51
- MetaSVM 0.08
- CADD 31.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available