G274V (p.Gly274Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G274V (p.Gly274Val) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta with normal sclerae, dominant form; Ehlers-Danlos syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G274V (p.Gly274Val) variant details
- p.Gly274Val
- rs67675951
- ClinGen CA162919540
- ClinVar RCV003313008
- ClinVar RCV006561399
- Pathogenic
- Osteogenesis imperfecta with normal sclerae, dominant form; Ehlers-Danlos syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- MutPred 1.00
- ClinVar: Pathogenic (Osteogenesis imperfecta with normal sclerae, dominant form; Ehle)
- 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)