G112V (p.Gly112Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G112V (p.Gly112Val) 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; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G112V (p.Gly112Val) variant details
- p.Gly112Val
- rs1791759246
- ClinGen CA368219543
- ClinVar RCV003441257
- ClinVar RCV005220714
- Pathogenic
- not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- MutPred 1.00
- ClinVar: Pathogenic (not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogene)
- 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)