P68A (p.Pro68Ala) variant of SMAD3 (SMAD family member 3)
P68A (p.Pro68Ala) 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 Familial thoracic aortic aneurysm and aortic dissection; not provided; Aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P68A (p.Pro68Ala) variant details
- p.Pro68Ala
- TOPMed rs1307168753
- gnomAD rs1307168753
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided; Aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.67
- CADD 26.20
- PolyPhen-2 0.80
- SIFT 0.04
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available