P68S (p.Pro68Ser) variant of SMAD3 (SMAD family member 3)
P68S (p.Pro68Ser) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurysm and aortic d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P68S (p.Pro68Ser) variant details
- p.Pro68Ser
- TOPMed rs1307168753
- gnomAD rs1307168753
- Conflicting interpretations
- Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurysm and aortic d
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.68
- CADD 24.70
- PolyPhen-2 0.61
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneur)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available