I500T (p.Ile500Thr) variant of SMAD4 (SMAD family member 4)
I500T (p.Ile500Thr) 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; SMAD4-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
I500T (p.Ile500Thr) variant details
- p.Ile500Thr
- rs281875321
- ClinGen CA128977
- ClinVar RCV000023060
- ClinVar RCV000059734
- Pathogenic
- Juvenile polyposis syndrome; SMAD4-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.65
- ClinVar: Pathogenic (Juvenile polyposis syndrome; SMAD4-related disorder; not provide)
- EBI: Pathogenic (in MYHRS)
- UniProt: Pathogenic (in MYHRS)
- Structural context available
- Cited in: Confirmation of existence of a new syndrome: LAPS syndrome. (PMID 11977156)
- Cited in: Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. (PMID 22158539)