C363Y (p.Cys363Tyr) variant of SMAD4 (SMAD family member 4)
C363Y (p.Cys363Tyr) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Juvenile polyposis syndrome; Familial thoracic aortic aneurysm and aortic dissec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
C363Y (p.Cys363Tyr) variant details
- p.Cys363Tyr
- rs876660556
- ClinGen CA10580985
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61684
- Likely pathogenic
- Juvenile polyposis syndrome; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Juvenile polyposis syndrome; Familial thoracic aortic aneurysm a)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)