G30A (p.Gly30Ala) variant of SMAD4 (SMAD family member 4)
G30A (p.Gly30Ala) 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 0.47 / 1. The record also includes structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- Ensembl rs2144400831
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.29
- MetaSVM -0.57
- CADD 24.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available