N13S (p.Asn13Ser) variant of SMAD4 (SMAD family member 4)
N13S (p.Asn13Ser) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Familial t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
N13S (p.Asn13Ser) variant details
- p.Asn13Ser
- rs281875323
- ClinGen CA162125
- ClinVar RCV000059736
- ClinVar RCV000122056
- Conflicting interpretations
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Familial t
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.86
- MetaSVM 0.70
- CADD 23.40
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. (PMID 21898662)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)