R361C (p.Arg361Cys) variant of SMAD4 (SMAD family member 4)
R361C (p.Arg361Cys) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R361C (p.Arg361Cys) variant details
- p.Arg361Cys
- rs80338963
- ClinGen CA128095
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61683
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Familial thoracic aorti)
- EBI: Pathogenic (in JPS)
- UniProt: Pathogenic (in JPS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SMAD4 mutations found in unselected HHT patients. (PMID 16613914)
- Cited in: Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. (PMID 8898652)