G1272E (p.Gly1272Glu) variant of COL1A1 (Collagen alpha-1(I) chain)
G1272E (p.Gly1272Glu) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G1272E (p.Gly1272Glu) variant details
- p.Gly1272Glu
- rs1114167402
- ClinGen CA400194034
- ClinVar RCV003843434
- gnomAD rs1114167402
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.81
- MetaSVM 0.96
- CADD 33.00
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)