N24S (p.Asn24Ser) variant of SMAD3 (SMAD family member 3)
N24S (p.Asn24Ser) 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; Aneurysm-osteoarthritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
N24S (p.Asn24Ser) variant details
- p.Asn24Ser
- rs2140188843
- ClinGen CA393202818
- ClinVar RCV002370832
- ClinVar RCV004804449
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aneurysm-osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.21
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aneurys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- 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)