C64S (p.Cys64Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
C64S (p.Cys64Ser) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C64S (p.Cys64Ser) variant details
- p.Cys64Ser
- rs1243495822
- ClinGen CA349868245
- ClinVar RCV002410679
- TOPMed rs1243495822
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.93
- CADD 26.70
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)