G581E (p.Gly581Glu) variant of COL1A1 (Collagen alpha-1(I) chain)
G581E (p.Gly581Glu) 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; Osteogenesis imperfecta type III. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
G581E (p.Gly581Glu) variant details
- p.Gly581Glu
- NCI-TCGA TCGA novel
- Likely pathogenic
- Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfec)
- UniProt: Likely pathogenic (in OI2)
- Structural context available