S3T (p.Ser3Thr) variant of SMAD3 (SMAD family member 3)
S3T (p.Ser3Thr) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S3T (p.Ser3Thr) variant details
- p.Ser3Thr
- ExAC rs761230207
- gnomAD rs761230207
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.06
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available