G460S (p.Gly460Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G460S (p.Gly460Ser) 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; not provided; Osteogenesis imperfecta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G460S (p.Gly460Ser) variant details
- p.Gly460Ser
- rs72658118
- ClinGen CA162924592
- cosmic curated COSV51956
- ClinVar RCV001597190
- Pathogenic
- Osteogenesis imperfecta, perinatal lethal; not provided; Osteogenesis imperfecta
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.73
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Osteogenesis imperfecta, perinatal lethal; not provided; Osteoge)
- EBI: Pathogenic (in OI3)
- UniProt: Pathogenic (in OI3)
- Structural context available
- Cited in: Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen… (PMID 8829649)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)