E26G (p.Glu26Gly) variant of COL3A1 (Collagen alpha-1(III) chain)
E26G (p.Glu26Gly) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- rs1399291719
- ClinGen CA349845501
- ClinVar RCV002409894
- ClinVar RCV006469822
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.19
- MetaLR 0.44
- MetaSVM -0.68
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)