I15T (p.Ile15Thr) variant of COL5A2 (Collagen alpha-2(V) chain)
I15T (p.Ile15Thr) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I15T (p.Ile15Thr) variant details
- p.Ile15Thr
- rs369394572
- ClinGen CA2023214
- ClinVar RCV002040343
- ClinVar RCV004822981
- Likely benign
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.18
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Likely benign (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)