G29A (p.Gly29Ala) variant of SMAD4 (SMAD family member 4)
G29A (p.Gly29Ala) 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.
G29A (p.Gly29Ala) variant details
- p.Gly29Ala
- Ensembl rs2144400817
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.53
- MetaSVM 0.04
- CADD 28.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available