I500M (p.Ile500Met) variant of SMAD4 (SMAD family member 4)
I500M (p.Ile500Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
I500M (p.Ile500Met) variant details
- p.Ile500Met
- rs281875320
- ClinGen CA128981
- ClinVar RCV000023062
- ClinVar RCV000059735
- Pathogenic
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.89
- MetaLR 0.94
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.10
- EVE 0.40
- ClinVar: Pathogenic (Juvenile polyposis syndrome)
- EBI: Pathogenic (in MYHRS)
- UniProt: Pathogenic (in MYHRS)
- Structural context available
- Cited in: Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. (PMID 22158539)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)