G1022A (p.Gly1022Ala) variant of COL1A1 (Collagen alpha-1(I) chain)
G1022A (p.Gly1022Ala) 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 III; Osteoporosis; Osteogenesis imperfecta with nor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G1022A (p.Gly1022Ala) variant details
- p.Gly1022Ala
- rs67771061
- ClinGen CA291543082
- ClinVar RCV000597715
- ClinVar RCV001062270
- Pathogenic
- Osteogenesis imperfecta type III; Osteoporosis; Osteogenesis imperfecta with nor
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.99
- MetaSVM 1.01
- CADD 24.60
- ClinVar: Pathogenic (Osteogenesis imperfecta type III; Osteoporosis; Osteogenesis imp)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)