L80Q (p.Leu80Gln) variant of COL5A2 (Collagen alpha-2(V) chain)
L80Q (p.Leu80Gln) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da. 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.
L80Q (p.Leu80Gln) variant details
- p.Leu80Gln
- rs1458760818
- ClinGen CA349867847
- ClinVar RCV001751438
- ClinVar RCV002241336
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.30
- CADD 17.60
- PolyPhen-2 0.09
- SIFT 0.59
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- 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: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)