G926D (p.Gly926Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
G926D (p.Gly926Asp) 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 1.00 / 1. The record also includes structural context.
G926D (p.Gly926Asp) variant details
- p.Gly926Asp
- NCI-TCGA Cosmic COSV9986
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal)
- UniProt: Pathogenic (in OI2)
- Structural context available