Q25R (p.Gln25Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
Q25R (p.Gln25Arg) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q25R (p.Gln25Arg) variant details
- p.Gln25Arg
- rs748787122
- ClinGen CA62577079
- ClinVar RCV001187218
- ClinVar RCV002559122
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.44
- MetaLR 0.75
- MetaSVM 0.54
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.46
- 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 2.7e-06)
- 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)