R8G (p.Arg8Gly) variant of COL1A1 (Collagen alpha-1(I) chain)
R8G (p.Arg8Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs775349207
- ClinGen CA400230482
- ClinVar RCV003517597
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- ESM-1b 0.04
- AlphaMissense 0.70
- MutPred 0.70
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)