C31S (p.Cys31Ser) variant of SMAD3 (SMAD family member 3)
C31S (p.Cys31Ser) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
C31S (p.Cys31Ser) variant details
- p.Cys31Ser
- TOPMed rs1443339510
- gnomAD rs1443339510
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available