G310S (p.Gly310Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G310S (p.Gly310Ser) 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; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G310S (p.Gly310Ser) variant details
- p.Gly310Ser
- rs72656391
- ClinVar RCV004586479
- ClinVar RCV005627137
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- MutPred 0.97
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfec)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)