R128C (p.Arg128Cys) variant of COL5A2 (Collagen alpha-2(V) chain)
R128C (p.Arg128Cys) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; not specified; Ehlers-D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R128C (p.Arg128Cys) variant details
- p.Arg128Cys
- rs1247714244
- ClinGen CA349863942
- ClinVar RCV001587138
- ClinVar RCV002359196
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; not specified; Ehlers-D
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; not spe)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)