I383M (p.Ile383Met) variant of SMAD4 (SMAD family member 4)
I383M (p.Ile383Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
I383M (p.Ile383Met) variant details
- p.Ile383Met
- rs2144451738
- ClinGen CA402464729
- cosmic curated COSV61688
- ClinVar RCV001377145
- Likely pathogenic
- Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Juvenile polyposis syndrome)
- EBI: Likely pathogenic
- UniProt: Likely 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)