G694S (p.Gly694Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G694S (p.Gly694Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G694S (p.Gly694Ser) variant details
- p.Gly694Ser
- rs121912908
- ClinGen CA368223207
- ClinVar RCV002050651
- ClinVar RCV005542484
- Conflicting interpretations
- Cardiovascular phenotype; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- REVEL 0.97
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Osteogenesis imperfecta type I; Ehlers)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)