G634S (p.Gly634Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G634S (p.Gly634Ser) 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 Osteogenesis imperfecta, perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G634S (p.Gly634Ser) variant details
- p.Gly634Ser
- rs2115921523
- ClinGen CA368222832
- ClinVar RCV002249376
- Ensembl rs2115921523
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Population evidence available
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)