G1052A (p.Gly1052Ala) variant of COL1A1 (Collagen alpha-1(I) chain)
G1052A (p.Gly1052Ala) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta type I; Osteogenesis imperfecta with normal sclerae, dom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G1052A (p.Gly1052Ala) variant details
- p.Gly1052Ala
- rs2509177392
- ClinGen CA400201057
- ClinVar RCV003072872
- ClinVar RCV005604811
- Pathogenic
- Osteogenesis imperfecta type I; Osteogenesis imperfecta with normal sclerae, dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- ESM-1b 1.00
- AlphaMissense 0.74
- ClinVar: Pathogenic (Osteogenesis imperfecta type I; Osteogenesis imperfecta with nor)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)