R918C (p.Arg918Cys) variant of COL1A1 (Collagen alpha-1(I) chain)
R918C (p.Arg918Cys) 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 Infantile cortical hyperostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R918C (p.Arg918Cys) variant details
- p.Arg918Cys
- ExAC rs752929501
- gnomAD rs752929501
- Pathogenic
- Infantile cortical hyperostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Infantile cortical hyperostosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available