G352R (p.Gly352Arg) variant of SMAD4 (SMAD family member 4)
G352R (p.Gly352Arg) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Juvenile polyposis syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G352R (p.Gly352Arg) variant details
- p.Gly352Arg
- rs121912581
- Ensembl rs121912581
- ClinGen CA128090
- NCI-TCGA Cosmic COSV6168
- Pathogenic/Likely pathogenic
- Juvenile polyposis syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Juvenile polyposis syndrome; not provided)
- EBI: Pathogenic (in JP/HHT and JPS)
- UniProt: Pathogenic (in JP/HHT and JPS)
- Structural context available
- Cited in: Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. (PMID 12417513)
- Cited in: A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4… (PMID 15031030)