R41C (p.Arg41Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
R41C (p.Arg41Cys) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- rs769457034
- ClinGen CA4346491
- ClinVar RCV002022573
- ClinVar RCV002276981
- Uncertain significance
- Cardiovascular phenotype; not specified; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.63
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Ehlers-Danlos syndrome,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)