R6L (p.Arg6Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
R6L (p.Arg6Leu) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- rs1166669897
- ClinGen CA375443790
- ClinVar RCV002407890
- ClinVar RCV005097771
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.55
- CADD 25.00
- PolyPhen-2 0.25
- SIFT 0.04
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aorti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)