G337S (p.Gly337Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G337S (p.Gly337Ser) 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 Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Ehlers. 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.
G337S (p.Gly337Ser) variant details
- p.Gly337Ser
- rs67865220
- ClinGen CA162920380
- NCI-TCGA Cosmic COSV5195
- cosmic curated COSV51956
- Pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Ehlers
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.99
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- 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: 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: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)