R130C (p.Arg130Cys) variant of COL5A2 (Collagen alpha-2(V) chain)
R130C (p.Arg130Cys) 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 Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome, classic type, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R130C (p.Arg130Cys) variant details
- p.Arg130Cys
- rs754170105
- ClinGen CA2023109
- ClinVar RCV000755980
- ClinVar RCV001851203
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome, classic type, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.68
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)