S423N (p.Ser423Asn) variant of SMAD3 (SMAD family member 3)
S423N (p.Ser423Asn) 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 not provided; Familial thoracic aortic aneurysm and aortic dissection; Aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
S423N (p.Ser423Asn) variant details
- p.Ser423Asn
- rs1555414503
- ClinGen CA392959033
- NCI-TCGA Cosmic COSV5928
- Conflicting interpretations
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.72
- SIFT 0.00
- MutPred 0.36
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)