G386D (p.Gly386Asp) variant of SMAD4 (SMAD family member 4)
G386D (p.Gly386Asp) 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/hereditary hemorrhagic telangiectasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G386D (p.Gly386Asp) variant details
- p.Gly386Asp
- rs121912580
- ClinGen CA128103
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61684
- Pathogenic
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrom)
- EBI: Pathogenic (in JP/HHT)
- UniProt: Pathogenic (in JP/HHT)
- Structural context available
- Cited in: Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis. (PMID 12116240)
- Cited in: A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4… (PMID 15031030)