G45D (p.Gly45Asp) variant of COL5A2 (Collagen alpha-2(V) chain)
G45D (p.Gly45Asp) 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 not specified; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- rs1333432776
- ClinGen CA349868700
- ClinVar RCV002387919
- ClinVar RCV006460161
- Uncertain significance
- not specified; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.37
- CADD 22.50
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Uncertain significance (not specified; Familial thoracic aortic aneurysm and aortic diss)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)