G974D (p.Gly974Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
G974D (p.Gly974Asp) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Osteogenesis imperfecta, perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G974D (p.Gly974Asp) variant details
- p.Gly974Asp
- Ensembl rs72653164
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal)
- UniProt: Pathogenic
- Structural context available