P10A (p.Pro10Ala) variant of SMAD4 (SMAD family member 4)
P10A (p.Pro10Ala) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- Ensembl rs2144400339
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.91
- MetaSVM 1.00
- CADD 23.80
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available