R10C (p.Arg10Cys) variant of COL5A1 (Collagen alpha-1(V) chain)
R10C (p.Arg10Cys) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- rs1457110544
- ClinGen CA375443814
- ClinVar RCV001726218
- ClinVar RCV002231289
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.36
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aorti)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)