G641R (p.Gly641Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G641R (p.Gly641Arg) 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 type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G641R (p.Gly641Arg) variant details
- p.Gly641Arg
- rs2144563717
- ClinGen CA400213663
- ClinVar RCV001953757
- ClinVar RCV002307816
- Pathogenic
- Osteogenesis imperfecta type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Osteogenesis imperfecta type I; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)