I500V (p.Ile500Val) variant of SMAD4 (SMAD family member 4)
I500V (p.Ile500Val) 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 Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I500V (p.Ile500Val) variant details
- p.Ile500Val
- rs281875322
- ClinGen CA128979
- ClinVar RCV000023061
- ClinVar RCV000059733
- Pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.71
- AlphaMissense 0.63
- MetaLR 0.96
- MetaSVM 1.11
- CADD 23.90
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- EBI: Pathogenic (in MYHRS)
- UniProt: Pathogenic (in MYHRS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)