G265V (p.Gly265Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G265V (p.Gly265Val) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of COL1A2-related disorder; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G265V (p.Gly265Val) variant details
- p.Gly265Val
- rs72656386
- ClinGen CA368220543
- ClinVar RCV001953647
- ClinVar RCV003401970
- Pathogenic/Likely pathogenic
- COL1A2-related disorder; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis i
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (COL1A2-related disorder; Ehlers-Danlos syndrome, classic type, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)