G245R (p.Gly245Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G245R (p.Gly245Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely 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.
G245R (p.Gly245Arg) variant details
- p.Gly245Arg
- NCI-TCGA TCGA novel
- Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (Osteogenesis imperfecta, perinatal lethal)
- UniProt: Likely pathogenic
- Structural context available