G358S (p.Gly358Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G358S (p.Gly358Ser) 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 type III; Osteogenesis imperfecta, perinatal lethal; Ost. 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.
G358S (p.Gly358Ser) variant details
- p.Gly358Ser
- rs66619856
- ClinGen CA162920823
- cosmic curated COSV51957
- ClinVar RCV001091391
- Pathogenic
- Osteogenesis imperfecta type III; Osteogenesis imperfecta, perinatal lethal; Ost
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Osteogenesis imperfecta type III; Osteogenesis imperfecta, perin)
- EBI: Pathogenic (in OI3)
- UniProt: Pathogenic (in OI3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (PMID 16705691)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)