G901S (p.Gly901Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G901S (p.Gly901Ser) 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 COL1A2-related osteogenesis imperfecta; Ehlers-Danlos syndrome; not provided. 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.
G901S (p.Gly901Ser) variant details
- p.Gly901Ser
- rs72659306
- ClinGen CA4347536
- cosmic curated COSV51964
- ClinVar RCV001843974
- Pathogenic/Likely pathogenic
- COL1A2-related osteogenesis imperfecta; Ehlers-Danlos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.99
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (COL1A2-related osteogenesis imperfecta; Ehlers-Danlos syndrome;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)