R361H (p.Arg361His) variant of SMAD4 (SMAD family member 4)
R361H (p.Arg361His) 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 0.91 / 1. The record also includes published literature and structural context.
R361H (p.Arg361His) variant details
- p.Arg361His
- rs377767347
- ClinGen CA128097
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61684
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Familial thoracic aorti)
- EBI: Pathogenic (in a colorectal cancer sample)
- UniProt: Pathogenic (in a colorectal cancer sample)
- Structural context available
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)