C363G (p.Cys363Gly) variant of SMAD4 (SMAD family member 4)
C363G (p.Cys363Gly) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Juvenile polyposis syndrome; SMAD4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
C363G (p.Cys363Gly) variant details
- p.Cys363Gly
- rs377767348
- ClinGen CA402464400
- cosmic curated COSV61690
- ClinVar RCV002012941
- Likely pathogenic
- Juvenile polyposis syndrome; SMAD4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Juvenile polyposis syndrome; SMAD4-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)