G221D (p.Gly221Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
G221D (p.Gly221Asp) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
G221D (p.Gly221Asp) variant details
- p.Gly221Asp
- rs2509245316
- ClinGen CA400224736
- ClinVar RCV003141617
- Pathogenic/Likely pathogenic
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Osteogenesis imperfecta type I)
- EBI: Likely pathogenic (in OI1)
- UniProt: Likely pathogenic (in OI1)
- Structural context available