S12N (p.Ser12Asn) variant of SMAD4 (SMAD family member 4)
S12N (p.Ser12Asn) 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 Juvenile polyposis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- rs2144400408
- ClinGen CA402457305
- ClinVar RCV001899152
- Ensembl rs2144400408
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 0.86
- CADD 24.20
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)