G368A (p.Gly368Ala) variant of COL1A1 (Collagen alpha-1(I) chain)
G368A (p.Gly368Ala) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Osteogenesis imperfecta; Osteogenesis imperfecta type I; Osteogenesis imperfecta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G368A (p.Gly368Ala) variant details
- p.Gly368Ala
- rs1555574151
- ClinGen CA400219930
- ClinVar RCV000538665
- ClinVar RCV001260276
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta; Osteogenesis imperfecta type I; Osteogenesis imperfecta
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- ESM-1b 1.00
- AlphaMissense 0.79
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta; Osteogenesis imperfecta type I; Osteoge)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)