D69N (p.Asp69Asn) variant of COL3A1 (Collagen alpha-1(III) chain)
D69N (p.Asp69Asn) in COL3A1 (Collagen alpha-1(III) 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; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D69N (p.Asp69Asn) variant details
- p.Asp69Asn
- rs112714742
- ClinGen CA074965
- cosmic curated COSV58596
- ClinVar RCV002018184
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.25
- MetaLR 0.33
- MetaSVM -0.46
- CADD 23.80
- PolyPhen-2 0.17
- SIFT 0.16
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)