Q6H (p.Gln6His) variant of COL3A1 (Collagen alpha-1(III) chain)
Q6H (p.Gln6His) 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.
Q6H (p.Gln6His) variant details
- p.Gln6His
- rs892404442
- ClinGen CA349845373
- ClinVar RCV003095544
- ClinVar RCV005323345
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.58
- MetaLR 0.57
- MetaSVM 0.29
- CADD 23.00
- PolyPhen-2 0.46
- SIFT 0.58
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)