R1014C (p.Arg1014Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
R1014C (p.Arg1014Cys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R1014C (p.Arg1014Cys) variant details
- p.Arg1014Cys
- rs72653170
- ClinGen CA341441
- ClinVar RCV000018889
- ClinVar RCV000420639
- Pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteo
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Post)
- EBI: Pathogenic (in CAFYD)
- UniProt: Pathogenic (in CAFYD)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related… (PMID 15864348)
- Cited in: Expanding the phenotypic spectrum of Caffey disease. (PMID 17309652)