G193S (p.Gly193Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G193S (p.Gly193Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of COL1A2-related disorder; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome. 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.
G193S (p.Gly193Ser) variant details
- p.Gly193Ser
- rs72656370
- ClinGen CA4346716
- ClinVar RCV000255575
- ClinVar RCV000490744
- Pathogenic
- COL1A2-related disorder; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.98
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (COL1A2-related disorder; Osteogenesis imperfecta type I; Ehlers-)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Osteogenesis imperfecta: clinical, biochemical and molecular findings. (PMID 16879195)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)