G29R (p.Gly29Arg) variant of SMAD4 (SMAD family member 4)
G29R (p.Gly29Arg) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- Ensembl rs2144400809
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.06
- CADD 31.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial thoracic aorti)
- UniProt: Uncertain significance
- Structural context available