G247S (p.Gly247Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G247S (p.Gly247Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; Ehlers-Danlos syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G247S (p.Gly247Ser) variant details
- p.Gly247Ser
- rs1064794058
- ClinGen CA368220429
- ClinVar RCV003479810
- ClinVar RCV005216124
- Pathogenic/Likely pathogenic
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; Ehlers-Danlos syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.97
- CADD 33.00
- ClinVar: Pathogenic/Likely pathogenic (Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; E)
- EBI: Pathogenic (in OI1)
- UniProt: Pathogenic (in OI1)
- Population evidence available
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)