G118V (p.Gly118Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G118V (p.Gly118Val) 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 not provided; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G118V (p.Gly118Val) variant details
- p.Gly118Val
- rs72656358
- ClinGen CA368219580
- ClinVar RCV001563459
- ClinVar RCV002239314
- Pathogenic
- not provided; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- MutPred 0.99
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta type I; Ehlers-Danlos synd)
- 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)