I383R (p.Ile383Arg) variant of SMAD4 (SMAD family member 4)
I383R (p.Ile383Arg) 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 Generalized juvenile polyposis/juvenile polyposis coli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
I383R (p.Ile383Arg) variant details
- p.Ile383Arg
- rs377767355
- ClinGen CA402464728
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61684
- Likely pathogenic
- Generalized juvenile polyposis/juvenile polyposis coli
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Generalized juvenile polyposis/juvenile polyposis coli)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)