G733C (p.Gly733Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G733C (p.Gly733Cys) 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 Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Osteoge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G733C (p.Gly733Cys) variant details
- p.Gly733Cys
- rs72658172
- UniProt VAR 063363
- Ensembl rs72658172
- Pathogenic/Likely pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Osteoge
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Structural context available
- Cited in: Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. (PMID 16786509)
- Cited in: Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (PMID 16705691)