G30E (p.Gly30Glu) variant of SMAD4 (SMAD family member 4)
G30E (p.Gly30Glu) 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 0.58 / 1. The record also includes structural context.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- Ensembl rs2144400831
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.44
- MetaSVM -0.19
- CADD 29.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available