R6C (p.Arg6Cys) variant of COL5A1 (Collagen alpha-1(V) chain)
R6C (p.Arg6Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- rs1460929040
- ClinGen CA375443787
- ClinVar RCV002907736
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.65
- CADD 29.70
- PolyPhen-2 0.69
- SIFT 0.02
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)