R8Q (p.Arg8Gln) variant of COL1A1 (Collagen alpha-1(I) chain)
R8Q (p.Arg8Gln) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Osteogenesis imperfecta type I; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs1196007286
- ClinGen CA400230480
- ClinVar RCV001221789
- ClinVar RCV004032425
- Uncertain significance
- Osteogenesis imperfecta type I; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.52
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)