N13D (p.Asn13Asp) variant of SMAD4 (SMAD family member 4)
N13D (p.Asn13Asp) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
N13D (p.Asn13Asp) variant details
- p.Asn13Asp
- rs1909566487
- ClinGen CA402457317
- ClinVar RCV001236702
- ClinVar RCV005403002
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 0.43
- MetaLR 0.93
- MetaSVM 0.99
- PolyPhen-2 0.99
- SIFT 0.12
- EVE 0.16
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)