E32D (p.Glu32Asp) variant of SMAD3 (SMAD family member 3)
E32D (p.Glu32Asp) 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; Aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E32D (p.Glu32Asp) variant details
- p.Glu32Asp
- rs1450927153
- ClinGen CA393202878
- ClinVar RCV002221932
- ClinVar RCV002382474
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.76
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)