R361G (p.Arg361Gly) variant of SMAD4 (SMAD family member 4)
R361G (p.Arg361Gly) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R361G (p.Arg361Gly) variant details
- p.Arg361Gly
- rs80338963
- ClinGen CA128092
- cosmic curated COSV61686
- ClinVar RCV002228051
- Pathogenic
- Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiec
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemor)
- EBI: Pathogenic (in a colorectal cancer sample)
- UniProt: Pathogenic (in a colorectal cancer sample)
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)