G950R (p.Gly950Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G950R (p.Gly950Arg) 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 Osteogenesis imperfecta, perinatal lethal; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G950R (p.Gly950Arg) variant details
- p.Gly950Arg
- rs72653160
- ClinGen CA291543152
- ClinVar RCV003235779
- gnomAD rs72653160
- Pathogenic/Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 29.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Osteogenesis imperfecta, perinatal lethal; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available