C16S (p.Cys16Ser) variant of SMAD4 (SMAD family member 4)
C16S (p.Cys16Ser) 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 0.84 / 1. The record also includes population frequency data and structural context.
C16S (p.Cys16Ser) variant details
- p.Cys16Ser
- Ensembl rs2144400500
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.85
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.11
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available