G365V (p.Gly365Val) variant of COL1A1 (Collagen alpha-1(I) chain)
G365V (p.Gly365Val) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Osteogenesis imperfecta with normal sclerae, dominant form; Osteog. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G365V (p.Gly365Val) variant details
- p.Gly365Val
- rs66494876
- ClinGen CA291546893
- ClinVar RCV001812395
- ClinVar RCV002222200
- Pathogenic/Likely pathogenic
- not provided; Osteogenesis imperfecta with normal sclerae, dominant form; Osteog
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- ESM-1b 1.00
- AlphaMissense 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided; Osteogenesis imperfecta with normal sclerae, domin)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)